ClinVar Miner

List of variants in gene ABCB4 reported as pathogenic for not provided

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Total variants: 34
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HGVS dbSNP
NM_000443.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_018849.2(ABCB4):c.1006-1G>T rs772823352
NM_018849.2(ABCB4):c.1006-2A>C rs1348606984
NM_018849.2(ABCB4):c.100dup (p.Thr34Asnfs) rs1554417376
NM_018849.2(ABCB4):c.1015delT (p.Ser339Glnfs) rs753104429
NM_018849.2(ABCB4):c.1144G>T (p.Glu382Ter) rs1554407511
NM_018849.2(ABCB4):c.139C>T (p.Arg47Ter) rs376926391
NM_018849.2(ABCB4):c.1501G>T (p.Glu501Ter)
NM_018849.2(ABCB4):c.1553del (p.Leu518Tyrfs)
NM_018849.2(ABCB4):c.1635_1648delTGCCCTGGTTCGCAinsCCATTCAGG (p.Ala546Hisfs)
NM_018849.2(ABCB4):c.1943del (p.Lys648Argfs)
NM_018849.2(ABCB4):c.2002C>T (p.Gln668Ter)
NM_018849.2(ABCB4):c.2082_2088del (p.Val695Phefs)
NM_018849.2(ABCB4):c.2211+1G>A rs794727183
NM_018849.2(ABCB4):c.2316+1G>A
NM_018849.2(ABCB4):c.2446delA (p.Arg816Aspfs) rs1554401344
NM_018849.2(ABCB4):c.2473C>T (p.Gln825Ter) rs1554401324
NM_018849.2(ABCB4):c.2625_2626delGAinsAT (p.Met875_Lys876delinsIleTer) rs886043734
NM_018849.2(ABCB4):c.2626A>T (p.Lys876Ter) rs886043725
NM_018849.2(ABCB4):c.2833C>T (p.Gln945Ter) rs886042562
NM_018849.2(ABCB4):c.3081+1G>C rs750829010
NM_018849.2(ABCB4):c.3136C>T (p.Arg1046Ter)
NM_018849.2(ABCB4):c.3300G>C (p.Gln1100His)
NM_018849.2(ABCB4):c.345-2A>G
NM_018849.2(ABCB4):c.3507+1G>A rs764513998
NM_018849.2(ABCB4):c.3629C>G (p.Ser1210Ter) rs748842753
NM_018849.2(ABCB4):c.3654+1G>T rs1245472904
NM_018849.2(ABCB4):c.475C>T (p.Arg159Ter)
NM_018849.2(ABCB4):c.609dup (p.Ala204Cysfs)
NM_018849.2(ABCB4):c.834-2A>G
NM_018849.2(ABCB4):c.879del (p.Ala294Leufs)
NM_018849.2(ABCB4):c.927T>G (p.Tyr309Ter)
NM_018849.2(ABCB4):c.932C>A (p.Ser311Ter)
NM_018849.2(ABCB4):c.94A>T (p.Lys32Ter)

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