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MyVariant.info Clinvar Data Examples
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{ | |
"clinvar": { | |
"allele_id": 15048, | |
"hgvs": { | |
"genomic": [ | |
"LRG_748:g.10633G>A", | |
"NG_008720.2:g.10633G>A", | |
"NC_000006.12:g.26092913G>A", | |
"NC_000006.11:g.26093141G>A" | |
], | |
"coding": [ | |
"LRG_748t1:c.845G>A", | |
"NM_139011.2:c.77-206G>A", | |
"NM_000410.3:c.845G>A" | |
] | |
}, | |
"ref": "G", | |
"rcv": [ | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "criteria provided, multiple submitters, no conflicts", | |
"accession": "RCV000000019", | |
"clinical_significance": "Pathogenic", | |
"number_submitters": 6, | |
"last_evaluated": "2015-09-17", | |
"conditions": { | |
"identifiers": { | |
"medgen": "C0392514", | |
"omim": "235200" | |
}, | |
"name": "Hemochromatosis type 1 (HFE1)" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "no assertion criteria provided", | |
"accession": "RCV000000020", | |
"clinical_significance": "risk factor", | |
"number_submitters": 1, | |
"last_evaluated": "2009-01-01", | |
"conditions": { | |
"name": "Porphyria cutanea tarda, susceptibility to" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "no assertion criteria provided", | |
"accession": "RCV000000021", | |
"clinical_significance": "risk factor", | |
"number_submitters": 1, | |
"last_evaluated": "2009-01-01", | |
"conditions": { | |
"name": "Porphyria variegata, susceptibility to" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "no assertion criteria provided", | |
"accession": "RCV000000022", | |
"clinical_significance": "Pathogenic", | |
"number_submitters": 1, | |
"last_evaluated": "2009-01-01", | |
"conditions": { | |
"name": "Hemochromatosis, juvenile, digenic" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "no assertion criteria provided", | |
"accession": "RCV000000023", | |
"clinical_significance": "risk factor", | |
"number_submitters": 1, | |
"last_evaluated": "2009-01-01", | |
"conditions": { | |
"name": "Alzheimer disease, susceptibility to" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "no assertion criteria provided", | |
"accession": "RCV000000024", | |
"clinical_significance": "association", | |
"number_submitters": 1, | |
"last_evaluated": "2009-01-01", | |
"conditions": { | |
"identifiers": { | |
"medgen": "C3280096", | |
"omim": "614193" | |
}, | |
"name": "Transferrin serum level quantitative trait locus 2 (TFQTL2)" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "no assertion criteria provided", | |
"accession": "RCV000000025", | |
"clinical_significance": "risk factor", | |
"number_submitters": 1, | |
"last_evaluated": "2009-01-01", | |
"conditions": { | |
"synonyms": [ | |
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7", | |
"NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO", | |
"NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO", | |
"PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO" | |
], | |
"identifiers": { | |
"medgen": "C2673520", | |
"omim": "612635" | |
}, | |
"name": "Microvascular complications of diabetes 7 (MVCD7)" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "criteria provided, single submitter", | |
"accession": "RCV000117222", | |
"clinical_significance": "Benign", | |
"number_submitters": 1, | |
"last_evaluated": "2013-11-04", | |
"conditions": { | |
"synonyms": "AllHighlyPenetrant", | |
"identifiers": { | |
"medgen": "CN169374" | |
}, | |
"name": "not specified" | |
} | |
}, | |
{ | |
"origin": "germline", | |
"preferred_name": "NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)", | |
"review_status": "no assertion provided", | |
"accession": "RCV000178096", | |
"clinical_significance": "not provided", | |
"number_submitters": 1, | |
"last_evaluated": "2014-10-13", | |
"conditions": { | |
"identifiers": { | |
"medgen": "CN221809" | |
}, | |
"name": "not provided" | |
} | |
} | |
], | |
"omim": "613609.0001", | |
"chrom": "6", | |
"rsid": "rs1800562", | |
"hg38": { | |
"start": 26092913, | |
"end": 26092913 | |
}, | |
"variant_id": 9, | |
"hg19": { | |
"start": 26093141, | |
"end": 26093141 | |
}, | |
"alt": "A", | |
"gene": { | |
"symbol": "HFE", | |
"id": "3077" | |
}, | |
"type": "single nucleotide variant", | |
"cytogenic": "6p22.2" | |
}, | |
"_id": "chr6:g.26093141G>A" | |
} |
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{ | |
"clinvar": { | |
"allele_id": 211490, | |
"hgvs": { | |
"genomic": [ | |
"LRG_187:g.10604T>C", | |
"NG_013331.1:g.10604T>C", | |
"NC_000011.10:g.119025302A>G", | |
"NC_000011.9:g.118896012A>G" | |
], | |
"coding": [ | |
"LRG_187t1:c.1012T>C", | |
"NM_001164277.1:c.1012T>C" | |
] | |
}, | |
"ref": "A", | |
"rcv": { | |
"origin": "germline", | |
"preferred_name": "NM_001164277.1(SLC37A4):c.1012T>C (p.Phe338Leu)", | |
"review_status": "criteria provided, single submitter", | |
"accession": "RCV000198299", | |
"clinical_significance": "Likely benign", | |
"number_submitters": 1, | |
"last_evaluated": "2014-03-04", | |
"conditions": { | |
"synonyms": "AllHighlyPenetrant", | |
"identifiers": { | |
"medgen": "CN169374" | |
}, | |
"name": "not specified" | |
} | |
}, | |
"chrom": "11", | |
"rsid": "rs200662873", | |
"hg38": { | |
"start": 119025302, | |
"end": 119025302 | |
}, | |
"variant_id": 215175, | |
"hg19": { | |
"start": 118896012, | |
"end": 118896012 | |
}, | |
"alt": "G", | |
"gene": { | |
"symbol": "SLC37A4", | |
"id": "2542" | |
}, | |
"type": "single nucleotide variant", | |
"cytogenic": "11q23.3" | |
}, | |
"_id": "chr11:g.118896012A>G" | |
} |
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{ | |
"clinvar": { | |
"allele_id": 34150, | |
"uniprot": "VAR_025602", | |
"hgvs": { | |
"genomic": [ | |
"LRG_187:g.10691G>A", | |
"NG_013331.1:g.10691G>A", | |
"NC_000011.10:g.119025215C>T", | |
"NC_000011.9:g.118895925C>T" | |
], | |
"coding": [ | |
"LRG_187t1:c.1099G>A", | |
"NM_001164277.1:c.1099G>A", | |
"NM_001467.5:c.1099G>A" | |
] | |
}, | |
"ref": "C", | |
"rcv": [ | |
{ | |
"origin": "not provided", | |
"preferred_name": "NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr)", | |
"review_status": "no assertion criteria provided", | |
"accession": "RCV000020461", | |
"clinical_significance": "Pathogenic", | |
"number_submitters": 1, | |
"last_evaluated": "2010-12-23", | |
"conditions": { | |
"synonyms": [ | |
"GLYCOGEN STORAGE DISEASE Ib", | |
"GSD Ib" | |
], | |
"identifiers": { | |
"omim": "232220", | |
"medgen": "C0268146", | |
"orphanet": "79259" | |
}, | |
"name": "Glucose-6-phosphate transport defect (GSD1B)", | |
"age_of_onset": "Neonatal" | |
} | |
}, | |
{ | |
"origin": "not provided", | |
"preferred_name": "NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr)", | |
"review_status": "no assertion provided", | |
"accession": "RCV000059118", | |
"clinical_significance": "not provided", | |
"number_submitters": 1, | |
"last_evaluated": "None", | |
"conditions": { | |
"identifiers": { | |
"medgen": "CN221809" | |
}, | |
"name": "not provided" | |
} | |
} | |
], | |
"chrom": "11", | |
"rsid": "rs80356492", | |
"hg38": { | |
"start": 119025215, | |
"end": 119025215 | |
}, | |
"variant_id": 21298, | |
"hg19": { | |
"start": 118895925, | |
"end": 118895925 | |
}, | |
"alt": "T", | |
"gene": { | |
"symbol": "SLC37A4", | |
"id": "2542" | |
}, | |
"type": "single nucleotide variant", | |
"cytogenic": "11q23.3" | |
}, | |
"_id": "chr11:g.118895925C>T" | |
} |
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