ClinVar Miner

List of variants studied for autoimmune disease by Institute of Human Genetics, University Medical Center Hamburg-Eppendorf

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) rs1940156255
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn) rs745788222
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn) rs2136508302

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