ClinVar Miner

List of variants reported as likely pathogenic for biliary tract disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948

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