ClinVar Miner

List of variants reported as pathogenic for biliary tract disorder by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
NM_016356.4(DCDC2):c.426_557del
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn) rs1042640142

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