ClinVar Miner

List of variants reported as likely pathogenic for Cholestasis, progressive familial intrahepatic 1

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Total variants: 10
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HGVS dbSNP
NM_000443.4(ABCB4):c.1119+5G>A rs1584750653
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala) rs863225298
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) rs1584747270
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) rs143456575
NM_000443.4(ABCB4):c.2784-12T>C rs201498350
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs) rs1599166106
NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) rs1057524081
NM_001374385.1(ATP8B1):c.3015+1G>T rs1599069873
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val) rs1599066459
NM_005603.6(ATP8B1):c.923G>T (p.Gly308Val) rs111033609

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