ClinVar Miner

List of variants in gene ABCB4 reported as pathogenic by OMIM

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Total variants: 13
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HGVS dbSNP
NM_018849.3(ABCB4):c.1207T>C (p.Tyr403His) rs121918443
NM_018849.3(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_018849.3(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
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.2169dup (p.Leu724fs) rs387906529
NM_018849.3(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440
NM_018849.3(ABCB4):c.3502C>T (p.Pro1168Ser) rs121918442
NM_018849.3(ABCB4):c.394_400del (p.Tyr132fs) rs387906526
NM_018849.3(ABCB4):c.430C>T (p.Arg144Ter) rs72552780
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018849.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778

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