ClinVar Miner

List of variants in gene ABCB4

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Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP
GRCh38/hg38 7q21.12(chr7:87418490-87492600)x3
NM_000443.3(ABCB4):c.3486+10dupA rs8187809
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
NM_018849.3(ABCB4):c.-18G>T rs886062461
NM_018849.3(ABCB4):c.-1G>A rs45449704
NM_018849.3(ABCB4):c.-6-4T>C rs8187785
NM_018849.3(ABCB4):c.1004C>G (p.Thr335Arg) rs1562983085
NM_018849.3(ABCB4):c.1006-1G>T rs772823352
NM_018849.3(ABCB4):c.1006-2A>C rs1348606984
NM_018849.3(ABCB4):c.100dup (p.Thr34fs) rs1554417376
NM_018849.3(ABCB4):c.1015del (p.Ser339fs) rs753104429
NM_018849.3(ABCB4):c.101C>T (p.Thr34Met) rs142794414
NM_018849.3(ABCB4):c.101_102delinsAA (p.Thr34Lys) rs1554417370
NM_018849.3(ABCB4):c.102G>T (p.Thr34=) rs1277340029
NM_018849.3(ABCB4):c.1043G>C (p.Gly348Ala) rs1562981176
NM_018849.3(ABCB4):c.1060A>G (p.Ile354Val) rs1432272679
NM_018849.3(ABCB4):c.1063G>A (p.Asp355Asn) rs1216385209
NM_018849.3(ABCB4):c.1073C>A (p.Ala358Asp) rs1057518413
NM_018849.3(ABCB4):c.1119+8A>C rs1471180323
NM_018849.3(ABCB4):c.1119T>C (p.Asn373=) rs1219097474
NM_018849.3(ABCB4):c.1120-8T>A rs1554407521
NM_018849.3(ABCB4):c.1143A>G (p.Ser381=) rs142671969
NM_018849.3(ABCB4):c.1144G>T (p.Glu382Ter) rs1554407511
NM_018849.3(ABCB4):c.1207T>C (p.Tyr403His) rs121918443
NM_018849.3(ABCB4):c.1230+15A>G rs1057522852
NM_018849.3(ABCB4):c.1230+3A>G rs1562979557
NM_018849.3(ABCB4):c.1231-16C>T rs56229233
NM_018849.3(ABCB4):c.1233C>A (p.Ile411=) rs916276498
NM_018849.3(ABCB4):c.1285G>A (p.Gly429Arg)
NM_018849.3(ABCB4):c.1313C>T (p.Thr438Met) rs142271471
NM_018849.3(ABCB4):c.1314G>A (p.Thr438=) rs45624933
NM_018849.3(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) rs387906528
NM_018849.3(ABCB4):c.1356+10A>G rs374723850
NM_018849.3(ABCB4):c.1357-17A>G rs201173706
NM_018849.3(ABCB4):c.1373A>C (p.Gln458Pro) rs1554406652
NM_018849.3(ABCB4):c.1378A>T (p.Ile460Phe) rs1562976422
NM_018849.3(ABCB4):c.139C>T (p.Arg47Ter) rs376926391
NM_018849.3(ABCB4):c.140G>A (p.Arg47Gln) rs372685632
NM_018849.3(ABCB4):c.1413C>T (p.Ile471=) rs771303478
NM_018849.3(ABCB4):c.1415T>C (p.Ile472Thr) rs749651405
NM_018849.3(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_018849.3(ABCB4):c.1472G>T (p.Cys491Phe) rs750188186
NM_018849.3(ABCB4):c.147C>T (p.Ser49=) rs8187789
NM_018849.3(ABCB4):c.1481G>A (p.Arg494His)
NM_018849.3(ABCB4):c.1501G>T (p.Glu501Ter) rs1562976167
NM_018849.3(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_018849.3(ABCB4):c.1553del (p.Leu518fs) rs1562976061
NM_018849.3(ABCB4):c.1560+16A>G rs769175596
NM_018849.3(ABCB4):c.1563A>G (p.Lys521=) rs751681894
NM_018849.3(ABCB4):c.1577T>G (p.Val526Gly) rs1554406429
NM_018849.3(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797
NM_018849.3(ABCB4):c.1603G>A (p.Gly535Ser)
NM_018849.3(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_018849.3(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs) rs1562975541
NM_018849.3(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_018849.3(ABCB4):c.1646G>A (p.Arg549His) rs761238221
NM_018849.3(ABCB4):c.1651C>A (p.Pro551Thr)
NM_018849.3(ABCB4):c.1672G>A (p.Glu558Lys) rs1562975478
NM_018849.3(ABCB4):c.1712del (p.Val571fs) rs387906527
NM_018849.3(ABCB4):c.1723C>T (p.Leu575=)
NM_018849.3(ABCB4):c.174G>A (p.Ser58=)
NM_018849.3(ABCB4):c.175C>T (p.Leu59=) rs2302387
NM_018849.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_018849.3(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632
NM_018849.3(ABCB4):c.179G>T (p.Gly60Val) rs1562998632
NM_018849.3(ABCB4):c.1817G>T (p.Gly606Val) rs886043723
NM_018849.3(ABCB4):c.1821A>C (p.Val607=)
NM_018849.3(ABCB4):c.1834G>A (p.Gly612Arg) rs886044649
NM_018849.3(ABCB4):c.1855_1857AAG[1] (p.Lys620del) rs774102354
NM_018849.3(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460
NM_018849.3(ABCB4):c.1864G>T (p.Gly622Trp) rs1562968700
NM_018849.3(ABCB4):c.1893+6T>C rs8187798
NM_018849.3(ABCB4):c.1895C>T (p.Thr632Ile) rs1554403476
NM_018849.3(ABCB4):c.1938T>C (p.Asp646=) rs553616378
NM_018849.3(ABCB4):c.1943del (p.Lys648fs) rs1562965250
NM_018849.3(ABCB4):c.1952C>A (p.Thr651Asn)
NM_018849.3(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028
NM_018849.3(ABCB4):c.1963C>G (p.Pro655Ala) rs550563139
NM_018849.3(ABCB4):c.1970G>T (p.Gly657Val) rs367709575
NM_018849.3(ABCB4):c.1979C>T (p.Ser660Phe) rs1255030717
NM_018849.3(ABCB4):c.1982G>A (p.Arg661His) rs532332220
NM_018849.3(ABCB4):c.2002C>T (p.Gln668Ter) rs1562965098
NM_018849.3(ABCB4):c.2011C>T (p.Leu671Phe)
NM_018849.3(ABCB4):c.201C>T (p.His67=) rs747703354
NM_018849.3(ABCB4):c.2044del (p.Asp682fs) rs1562965036
NM_018849.3(ABCB4):c.2047G>A (p.Val683Met) rs776616540
NM_018849.3(ABCB4):c.2055C>T (p.Thr685=) rs747255117
NM_018849.3(ABCB4):c.2065-3T>C rs772471049
NM_018849.3(ABCB4):c.207A>G (p.Ser69=)
NM_018849.3(ABCB4):c.2082_2088del (p.Val695fs) rs1562963055
NM_018849.3(ABCB4):c.2113A>G (p.Lys705Glu) rs1562963002
NM_018849.3(ABCB4):c.2137G>A (p.Val713Met) rs373122168
NM_018849.3(ABCB4):c.2137G>T (p.Val713Leu)
NM_018849.3(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456
NM_018849.3(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518
NM_018849.3(ABCB4):c.2169dup (p.Leu724fs) rs387906529
NM_018849.3(ABCB4):c.2177C>T (p.Pro726Leu) rs141677867
NM_018849.3(ABCB4):c.217C>G (p.Leu73Val) rs8187788
NM_018849.3(ABCB4):c.2191A>G (p.Ile731Val) rs200949614
NM_018849.3(ABCB4):c.2198C>T (p.Ser733Leu) rs759894200
NM_018849.3(ABCB4):c.2211+16C>T rs31668
NM_018849.3(ABCB4):c.2211+1G>A rs794727183
NM_018849.3(ABCB4):c.2211+5G>A rs773539504
NM_018849.3(ABCB4):c.2211G>A (p.Ala737=)
NM_018849.3(ABCB4):c.2212-5T>A rs1554402258
NM_018849.3(ABCB4):c.2217T>G (p.Phe739Leu)
NM_018849.3(ABCB4):c.2289T>G (p.Ile763Met)
NM_018849.3(ABCB4):c.2295T>C (p.Ser765=)
NM_018849.3(ABCB4):c.2316+1G>A rs1562961442
NM_018849.3(ABCB4):c.2316G>A (p.Gln772=) rs1562961445
NM_018849.3(ABCB4):c.2318G>T (p.Gly773Val) rs1554401811
NM_018849.3(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_018849.3(ABCB4):c.2325G>C (p.Thr775=) rs8187802
NM_018849.3(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801
NM_018849.3(ABCB4):c.2394+13G>A rs370406753
NM_018849.3(ABCB4):c.2395-19C>T rs45593648
NM_018849.3(ABCB4):c.2395-3T>C rs377462787
NM_018849.3(ABCB4):c.240G>A (p.Glu80=) rs8187787
NM_018849.3(ABCB4):c.2435C>A (p.Ala812Glu)
NM_018849.3(ABCB4):c.2446del (p.Arg816fs) rs1554401344
NM_018849.3(ABCB4):c.2473C>T (p.Gln825Ter) rs1554401324
NM_018849.3(ABCB4):c.2477G>A (p.Gly826Glu)
NM_018849.3(ABCB4):c.2535T>C (p.Gly845=) rs545534537
NM_018849.3(ABCB4):c.2581T>G (p.Leu861Val) rs112610863
NM_018849.3(ABCB4):c.2586A>G (p.Ala862=) rs1554400942
NM_018849.3(ABCB4):c.2619T>G (p.Val873=) rs775357102
NM_018849.3(ABCB4):c.2625G>A (p.Met875Ile) rs886043727
NM_018849.3(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer) rs886043734
NM_018849.3(ABCB4):c.2626A>T (p.Lys876Ter) rs886043725
NM_018849.3(ABCB4):c.263C>G (p.Thr88Ser) rs1417236795
NM_018849.3(ABCB4):c.2687C>A (p.Ala896Glu) rs1562955105
NM_018849.3(ABCB4):c.2699T>C (p.Ile900Thr) rs1562955080
NM_018849.3(ABCB4):c.2703A>G (p.Glu901=)
NM_018849.3(ABCB4):c.2708_2710del (p.Ile903del) rs886044705
NM_018849.3(ABCB4):c.2718_2720del (p.Val907del) rs1562955015
NM_018849.3(ABCB4):c.2730C>T (p.Thr910=) rs978222245
NM_018849.3(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_018849.3(ABCB4):c.280T>C (p.Phe94Leu) rs567483147
NM_018849.3(ABCB4):c.2811T>C (p.Tyr937=) rs1461886025
NM_018849.3(ABCB4):c.2828_2829delinsAT (p.Ile943Asn) rs1562953769
NM_018849.3(ABCB4):c.2833C>T (p.Gln945Ter) rs886042562
NM_018849.3(ABCB4):c.2863T>G (p.Cys955Gly) rs1289876112
NM_018849.3(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440
NM_018849.3(ABCB4):c.2899C>T (p.His967Tyr)
NM_018849.3(ABCB4):c.2905C>T (p.Arg969Cys) rs748571017
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.2936C>A (p.Ala979Glu)
NM_018849.3(ABCB4):c.2952A>G (p.Ala984=) rs45574932
NM_018849.3(ABCB4):c.3000T>C (p.Ala1000=)
NM_018849.3(ABCB4):c.3001A>G (p.Lys1001Glu) rs1476260159
NM_018849.3(ABCB4):c.3004C>T (p.Leu1002=) rs1242439596
NM_018849.3(ABCB4):c.3013G>A (p.Ala1005Thr) rs531111327
NM_018849.3(ABCB4):c.302C>T (p.Ser101Leu)
NM_018849.3(ABCB4):c.3033T>C (p.Phe1011=) rs1297237099
NM_018849.3(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_018849.3(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_018849.3(ABCB4):c.3077del (p.Lys1026fs)
NM_018849.3(ABCB4):c.3081+1G>C rs750829010
NM_018849.3(ABCB4):c.3111T>C (p.Asn1037=) rs8187808
NM_018849.3(ABCB4):c.3131C>T (p.Pro1044Leu) rs371152960
NM_018849.3(ABCB4):c.3136C>T (p.Arg1046Ter)
NM_018849.3(ABCB4):c.3149C>T (p.Pro1050Leu) rs1554398481
NM_018849.3(ABCB4):c.3179A>C (p.Lys1060Thr)
NM_018849.3(ABCB4):c.3227G>A (p.Ser1076Asn) rs1554398434
NM_018849.3(ABCB4):c.3230C>T (p.Thr1077Met) rs754565782
NM_018849.3(ABCB4):c.3231G>A (p.Thr1077=) rs376825608
NM_018849.3(ABCB4):c.3244C>T (p.Leu1082=) rs1562950567
NM_018849.3(ABCB4):c.3247G>A (p.Glu1083Lys)
NM_018849.3(ABCB4):c.3250C>T (p.Arg1084Trp) rs1262922848
NM_018849.3(ABCB4):c.3258C>T (p.Tyr1086=) rs1435564748
NM_018849.3(ABCB4):c.3268G>C (p.Ala1090Pro) rs1562950481
NM_018849.3(ABCB4):c.3279+5G>A rs1562950443
NM_018849.3(ABCB4):c.3280-3T>C rs753672621
NM_018849.3(ABCB4):c.3292G>A (p.Gly1098Ser) rs200617059
NM_018849.3(ABCB4):c.3300G>C (p.Gln1100His) rs1562949296
NM_018849.3(ABCB4):c.3306C>T (p.Leu1102=) rs561612231
NM_018849.3(ABCB4):c.3317A>G (p.Glu1106Gly)
NM_018849.3(ABCB4):c.3319G>A (p.Ala1107Thr) rs31655
NM_018849.3(ABCB4):c.3320C>T (p.Ala1107Val) rs1439704366
NM_018849.3(ABCB4):c.3347G>A (p.Arg1116Lys) rs757931203
NM_018849.3(ABCB4):c.3355C>G (p.Leu1119Val) rs886044706
NM_018849.3(ABCB4):c.3357C>T (p.Leu1119=) rs756982751
NM_018849.3(ABCB4):c.3358G>A (p.Gly1120Arg) rs1282338773
NM_018849.3(ABCB4):c.3368C>G (p.Ser1123Cys) rs373338470
NM_018849.3(ABCB4):c.3392G>A (p.Cys1131Tyr) rs886044199
NM_018849.3(ABCB4):c.3393C>T (p.Cys1131=) rs886062459
NM_018849.3(ABCB4):c.3402C>T (p.Ala1134=) rs766402494
NM_018849.3(ABCB4):c.3423C>T (p.Asp1141=)
NM_018849.3(ABCB4):c.3432G>C (p.Arg1144=)
NM_018849.3(ABCB4):c.3436G>T (p.Val1146Leu)
NM_018849.3(ABCB4):c.345-2A>G rs1562989885
NM_018849.3(ABCB4):c.3452T>C (p.Ile1151Thr)
NM_018849.3(ABCB4):c.3455T>C (p.Val1152Ala) rs1562948881
NM_018849.3(ABCB4):c.3457A>C (p.Ser1153Arg) rs886044011
NM_018849.3(ABCB4):c.3472G>A (p.Ala1158Thr) rs138850786
NM_018849.3(ABCB4):c.3490_3492del (p.Ile1164del) rs1554397785
NM_018849.3(ABCB4):c.3492C>T (p.Ile1164=) rs752578370
NM_018849.3(ABCB4):c.3497C>T (p.Thr1166Met)
NM_018849.3(ABCB4):c.3498G>A (p.Thr1166=) rs368458295
NM_018849.3(ABCB4):c.3502C>T (p.Pro1168Ser) rs121918442
NM_018849.3(ABCB4):c.3507+1G>A rs764513998
NM_018849.3(ABCB4):c.3508-16T>C rs31653
NM_018849.3(ABCB4):c.3509A>T (p.Lys1170Ile) rs1562946659
NM_018849.3(ABCB4):c.3554G>T (p.Gly1185Val) rs886043650
NM_018849.3(ABCB4):c.3564G>A (p.Gln1188=) rs140592811
NM_018849.3(ABCB4):c.3586C>G (p.Leu1196Val)
NM_018849.3(ABCB4):c.3598C>A (p.Pro1200Thr) rs1562946432
NM_018849.3(ABCB4):c.3629C>G (p.Ser1210Ter) rs748842753
NM_018849.3(ABCB4):c.3654+1G>T rs1245472904
NM_018849.3(ABCB4):c.3654+9G>A rs1554396917
NM_018849.3(ABCB4):c.366A>G (p.Gly122=) rs113445400
NM_018849.3(ABCB4):c.3685G>A (p.Glu1229Lys) rs752080958
NM_018849.3(ABCB4):c.3697T>G (p.Cys1233Gly) rs769306313
NM_018849.3(ABCB4):c.370G>T (p.Gly124Cys) rs1562989807
NM_018849.3(ABCB4):c.3745dup (p.Ile1249fs) rs1562945221
NM_018849.3(ABCB4):c.377G>A (p.Gly126Glu)
NM_018849.3(ABCB4):c.3832A>C (p.Ser1278Arg) rs768236469
NM_018849.3(ABCB4):c.3837C>T (p.Val1279=) rs1029350022
NM_018849.3(ABCB4):c.3859T>C (p.Ter1287Arg) rs754770911
NM_018849.3(ABCB4):c.394_400del (p.Tyr132fs) rs387906526
NM_018849.3(ABCB4):c.398T>C (p.Ile133Thr)
NM_018849.3(ABCB4):c.430C>T (p.Arg144Ter) rs72552780
NM_018849.3(ABCB4):c.431G>A (p.Arg144Gln) rs863225299
NM_018849.3(ABCB4):c.438C>T (p.Ile146=) rs776179529
NM_018849.3(ABCB4):c.456G>A (p.Lys152=) rs147333055
NM_018849.3(ABCB4):c.459T>C (p.Phe153=) rs2230027
NM_018849.3(ABCB4):c.475C>T (p.Arg159Ter)
NM_018849.3(ABCB4):c.476G>A (p.Arg159Gln) rs1269792276
NM_018849.3(ABCB4):c.504C>T (p.Asn168=) rs1202283
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018849.3(ABCB4):c.524C>T (p.Thr175Met) rs746166913
NM_018849.3(ABCB4):c.525G>A (p.Thr175=) rs558416191
NM_018849.3(ABCB4):c.526C>T (p.Arg176Trp) rs754287486
NM_018849.3(ABCB4):c.536+11T>C rs8187790
NM_018849.3(ABCB4):c.536+9A>G rs1562989394
NM_018849.3(ABCB4):c.54G>A (p.Glu18=)
NM_018849.3(ABCB4):c.577G>A (p.Gly193Arg) rs1554409845
NM_018849.3(ABCB4):c.602C>T (p.Thr201Met) rs753318087
NM_018849.3(ABCB4):c.609dup (p.Ala204fs) rs1562988165
NM_018849.3(ABCB4):c.696C>T (p.Ala232=) rs8187791
NM_018849.3(ABCB4):c.709A>T (p.Ile237Leu) rs201611454
NM_018849.3(ABCB4):c.711A>T (p.Ile237=) rs2109505
NM_018849.3(ABCB4):c.712C>G (p.Leu238Val) rs45596335
NM_018849.3(ABCB4):c.717G>A (p.Ser239=) rs770169131
NM_018849.3(ABCB4):c.760G>A (p.Ala254Thr) rs147998447
NM_018849.3(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
NM_018849.3(ABCB4):c.79A>G (p.Ser27Gly) rs1563012148
NM_018849.3(ABCB4):c.80+5A>C
NM_018849.3(ABCB4):c.807C>T (p.Phe269=) rs1421517860
NM_018849.3(ABCB4):c.808G>C (p.Gly270Arg) rs551234479
NM_018849.3(ABCB4):c.81-16A>G rs45552835
NM_018849.3(ABCB4):c.833+6G>A rs202146217
NM_018849.3(ABCB4):c.833G>A (p.Arg278Lys) rs1554409350
NM_018849.3(ABCB4):c.834-2A>G rs1562983531
NM_018849.3(ABCB4):c.879del (p.Ala294fs) rs1326932143
NM_018849.3(ABCB4):c.910G>T (p.Ala304Ser) rs773840926
NM_018849.3(ABCB4):c.911C>A (p.Ala304Asp) rs374836252
NM_018849.3(ABCB4):c.927T>C (p.Tyr309=) rs199504845
NM_018849.3(ABCB4):c.927T>G (p.Tyr309Ter)
NM_018849.3(ABCB4):c.928G>A (p.Ala310Thr) rs747932250
NM_018849.3(ABCB4):c.932C>A (p.Ser311Ter) rs1562983272
NM_018849.3(ABCB4):c.94A>T (p.Lys32Ter) rs1563009379
NM_018849.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_018849.3(ABCB4):c.979G>A (p.Glu327Lys) rs1562983147
NM_018849.3(ABCB4):c.996T>C (p.Asn332=) rs1388323440

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