ClinVar Miner

List of variants in gene ABCB4 reported as pathogenic for Cholecystitis

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Total variants: 7
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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.1769G>A (p.Arg590Gln) rs45575636
NM_018849.3(ABCB4):c.3136C>T (p.Arg1046Ter)
NM_018849.3(ABCB4):c.3502C>T (p.Pro1168Ser) rs121918442
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018849.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778

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