ClinVar Miner

List of variants in gene ABCB4 reported as pathogenic

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000443.4(ABCB4):c.2211+1G>A rs794727183 0.00002
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440 0.00002
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) rs754287486 0.00002
NM_000443.4(ABCB4):c.1006-1G>T rs772823352 0.00001
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter) rs1554407511 0.00001
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter) rs376926391 0.00001
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter) rs1458423947 0.00001
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp) rs1444056772 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter) rs886042562 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) rs72552780 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter) rs1348610360 0.00001
NC_000007.13:g.(?_87042913)_(87043053_?)del
NC_000007.13:g.(?_87072615)_(87076541_?)del
NC_000007.13:g.(?_87092054)_(87092244_?)del
NM_000443.4(ABCB4):c.1006-2A>C rs1348606984
NM_000443.4(ABCB4):c.100del (p.Thr34fs)
NM_000443.4(ABCB4):c.100dup (p.Thr34fs) rs1554417376
NM_000443.4(ABCB4):c.1015del (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His) rs121918443
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
NM_000443.4(ABCB4):c.1318C>T (p.Gln440Ter)
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_000443.4(ABCB4):c.1371del (p.Gln458fs)
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter) rs1562976167
NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)
NM_000443.4(ABCB4):c.1553del (p.Leu518fs) rs1562976061
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs) rs1562975541
NM_000443.4(ABCB4):c.1635del (p.Ala546fs)
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.1690_1702del (p.Asp564fs)
NM_000443.4(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)
NM_000443.4(ABCB4):c.1768C>T (p.Arg590Ter)
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter) rs148792791
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His) rs1810212221
NM_000443.4(ABCB4):c.1943del (p.Lys648fs) rs1562965250
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter) rs1562965098
NM_000443.4(ABCB4):c.2044del (p.Asp682fs) rs1562965036
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs) rs1562963055
NM_000443.4(ABCB4):c.2090_2093dup (p.Lys699fs)
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs) rs387906529
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)
NM_000443.4(ABCB4):c.2316+1G>A rs1562961442
NM_000443.4(ABCB4):c.2446del (p.Arg816fs) rs1554401344
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter) rs1554401324
NM_000443.4(ABCB4):c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val863_Val864delinsIleSerValLysHisTer)
NM_000443.4(ABCB4):c.2609C>G (p.Ser870Ter)
NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer) rs886043734
NM_000443.4(ABCB4):c.2626A>T (p.Lys876Ter) rs886043725
NM_000443.4(ABCB4):c.2653_2654del (p.Arg884_Asp885insTer) rs2116463248
NM_000443.4(ABCB4):c.2682+1G>A rs1012575668
NM_000443.4(ABCB4):c.2683-883_2783+345del
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) rs1808782267
NM_000443.4(ABCB4):c.2858C>A (p.Ala953Asp) rs2116406254
NM_000443.4(ABCB4):c.286+1G>A
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs) rs1584678508
NM_000443.4(ABCB4):c.3081+1G>C rs750829010
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3280-1G>C rs1562949296
NM_000443.4(ABCB4):c.3349C>T (p.Gln1117Ter)
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
NM_000443.4(ABCB4):c.3412del (p.Val1138fs)
NM_000443.4(ABCB4):c.345-2A>G rs1562989885
NM_000443.4(ABCB4):c.3492T>G (p.Tyr1164Ter)
NM_000443.4(ABCB4):c.3520C>T (p.Gln1174Ter)
NM_000443.4(ABCB4):c.3541C>T (p.Gln1181Ter)
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter) rs748842753
NM_000443.4(ABCB4):c.3633+1G>T rs1245472904
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) rs1562945221
NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) rs387906526
NM_000443.4(ABCB4):c.609dup (p.Ala204fs) rs1562988165
NM_000443.4(ABCB4):c.749del (p.Ala250fs)
NM_000443.4(ABCB4):c.784del (p.Ala262fs)
NM_000443.4(ABCB4):c.834-2A>G rs1562983531
NM_000443.4(ABCB4):c.838C>T (p.Gln280Ter) rs755012183
NM_000443.4(ABCB4):c.879del (p.Ala294fs) rs1326932143
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
NM_000443.4(ABCB4):c.91del (p.Arg31fs)
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter) rs199504845
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter) rs1562983272
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter) rs1563009379
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter) rs931093296

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