ClinVar Miner

List of variants in gene ABCB4 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 179
Download table as spreadsheet
HGVS dbSNP
GRCh38/hg38 7q21.12(chr7:87418490-87492600)x3
NM_018849.3(ABCB4):c.-18G>T rs886062461
NM_018849.3(ABCB4):c.1004C>G (p.Thr335Arg) rs1562983085
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.1230+3A>G rs1562979557
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.1356+10A>G rs374723850
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.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.1481G>A (p.Arg494His)
NM_018849.3(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
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.1603G>A (p.Gly535Ser)
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.1723C>T (p.Leu575=)
NM_018849.3(ABCB4):c.174G>A (p.Ser58=)
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.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.1952C>A (p.Thr651Asn)
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.2011C>T (p.Leu671Phe)
NM_018849.3(ABCB4):c.201C>T (p.His67=) rs747703354
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.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.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+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.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.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.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.2625G>A (p.Met875Ile) rs886043727
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.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.2863T>G (p.Cys955Gly) rs1289876112
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.2936C>A (p.Ala979Glu)
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.3111T>C (p.Asn1037=) rs8187808
NM_018849.3(ABCB4):c.3131C>T (p.Pro1044Leu) rs371152960
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.3292G>A (p.Gly1098Ser) rs200617059
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.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.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.3509A>T (p.Lys1170Ile) rs1562946659
NM_018849.3(ABCB4):c.3554G>T (p.Gly1185Val) rs886043650
NM_018849.3(ABCB4):c.3586C>G (p.Leu1196Val)
NM_018849.3(ABCB4):c.3598C>A (p.Pro1200Thr) rs1562946432
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.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.398T>C (p.Ile133Thr)
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.476G>A (p.Arg159Gln) rs1269792276
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.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.696C>T (p.Ala232=) rs8187791
NM_018849.3(ABCB4):c.709A>T (p.Ile237Leu) rs201611454
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.80+5A>C
NM_018849.3(ABCB4):c.808G>C (p.Gly270Arg) rs551234479
NM_018849.3(ABCB4):c.833G>A (p.Arg278Lys) rs1554409350
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.928G>A (p.Ala310Thr) rs747932250
NM_018849.3(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_018849.3(ABCB4):c.979G>A (p.Glu327Lys) rs1562983147

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.