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MyVariant.info Clinvar Data Examples
{
"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"
}
{
"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"
}
{
"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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