ClinVar Miner

List of variants in gene ABCB4 reported as likely pathogenic

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
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.2217T>G (p.Phe739Leu) rs143456575 0.00004
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met) rs571555115 0.00003
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) rs1037196284 0.00003
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.1144G>T (p.Glu382Ter) rs1554407511 0.00001
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) rs886894962 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867 0.00001
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) rs754565782 0.00001
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys) rs757931203 0.00001
NM_000443.4(ABCB4):c.3486+1G>A rs764513998 0.00001
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg) rs754770911 0.00001
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) rs757693457 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_000443.4(ABCB4):c.1119+1G>T rs1584750660
NM_000443.4(ABCB4):c.1119+2T>C
NM_000443.4(ABCB4):c.1119+5G>A rs1584750653
NM_000443.4(ABCB4):c.1196T>C (p.Val399Ala)
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala) rs863225298
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
NM_000443.4(ABCB4):c.1283T>A (p.Val428Asp) rs1811114545
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) rs1584747270
NM_000443.4(ABCB4):c.1357-1G>A
NM_000443.4(ABCB4):c.1357-2A>C rs1584742063
NM_000443.4(ABCB4):c.1357-2A>G
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe) rs1562976422
NM_000443.4(ABCB4):c.1406_1409del (p.Arg469fs)
NM_000443.4(ABCB4):c.1429C>T (p.Gln477Ter)
NM_000443.4(ABCB4):c.1449CAC[1] (p.Thr485del)
NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)
NM_000443.4(ABCB4):c.1560+1G>A rs2116689179
NM_000443.4(ABCB4):c.1571C>A (p.Thr524Asn)
NM_000443.4(ABCB4):c.1634G>A (p.Arg545His)
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His) rs1810212221
NM_000443.4(ABCB4):c.1906C>T (p.Gln636Ter)
NM_000443.4(ABCB4):c.2064+3A>T
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val) rs1554401811
NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)
NM_000443.4(ABCB4):c.2394+1G>A
NM_000443.4(ABCB4):c.2395-1G>A
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter) rs533310204
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) rs1808782267
NM_000443.4(ABCB4):c.2783+1G>T
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2861G>A (p.Gly954Asp)
NM_000443.4(ABCB4):c.2882_2883del (p.Tyr961fs) rs1584684209
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro) rs1051861187
NM_000443.4(ABCB4):c.2948G>A (p.Gly983Asp)
NM_000443.4(ABCB4):c.3081+1G>T
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)
NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met) rs1187517509
NM_000443.4(ABCB4):c.3257A>C (p.Tyr1086Ser) rs745972631
NM_000443.4(ABCB4):c.334G>T (p.Glu112Ter)
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs) rs1584671714
NM_000443.4(ABCB4):c.3486+1G>C
NM_000443.4(ABCB4):c.3506G>A (p.Gly1169Glu)
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) rs1584665400
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) rs1562945221
NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)
NM_000443.4(ABCB4):c.433C>T (p.Gln145Ter)
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer) rs1584763429
NM_000443.4(ABCB4):c.762del (p.Val255fs)
NM_000443.4(ABCB4):c.766G>A (p.Ala256Thr)
NM_000443.4(ABCB4):c.793A>T (p.Thr265Ser)
NM_000443.4(ABCB4):c.79A>G (p.Ser27Gly) rs1563012148
NM_000443.4(ABCB4):c.80+1G>A
NM_000443.4(ABCB4):c.80+2T>A
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg) rs551234479
NM_000443.4(ABCB4):c.833+1G>A
NM_000443.4(ABCB4):c.834-1G>A rs752563752
NM_000443.4(ABCB4):c.893del (p.Asn298fs) rs1584754766
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp) rs1584754706
NM_000443.4(ABCB4):c.944C>A (p.Ala315Asp)
NM_018849.2(ABCB4):c.[431G>A;1210C>G]

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