ClinVar Miner

List of variants in gene ABCB4 reported as pathogenic for Cholestasis, intrahepatic, of pregnancy 3

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Total variants: 8
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NM_018849.3(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_018849.3(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_018849.3(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_018849.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_018849.3(ABCB4):c.2044del (p.Asp682fs) rs1562965036
NM_018849.3(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440
NM_018849.3(ABCB4):c.430C>T (p.Arg144Ter) rs72552780
NM_018849.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778

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