ClinVar Miner

List of variants in gene ABCB4 reported as likely pathogenic

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Total variants: 11
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HGVS dbSNP
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
NM_018849.3(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_018849.3(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867
NM_018849.3(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_018849.3(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440
NM_018849.3(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_018849.3(ABCB4):c.2932T>C (p.Ser978Pro) rs1051861187
NM_018849.3(ABCB4):c.3745dup (p.Ile1249fs) rs1562945221
NM_018849.3(ABCB4):c.526C>T (p.Arg176Trp) rs754287486
NM_018849.3(ABCB4):c.79A>G (p.Ser27Gly) rs1563012148
NM_018849.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778

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