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: 305
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val) rs45596335 0.00155
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788 0.00074
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00073
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000443.4(ABCB4):c.3298G>A (p.Ala1100Thr) rs31655 0.00039
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_000443.4(ABCB4):c.2395-3T>C rs377462787 0.00029
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) rs140592811 0.00025
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=) rs1057495486 0.00024
NM_000443.4(ABCB4):c.760G>A (p.Ala254Thr) rs147998447 0.00023
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met) rs142271471 0.00019
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808 0.00019
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000443.4(ABCB4):c.366A>G (p.Gly122=) rs113445400 0.00016
NM_000443.4(ABCB4):c.3764C>T (p.Thr1255Met) rs147577035 0.00016
NM_000443.4(ABCB4):c.80+5A>C rs186976987 0.00016
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00016
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) rs8187811 0.00014
NM_000443.4(ABCB4):c.3671G>A (p.Arg1224His) rs144790968 0.00012
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000443.4(ABCB4):c.2065-3T>C rs772471049 0.00011
NM_000443.4(ABCB4):c.2211+5G>A rs773539504 0.00010
NM_000443.4(ABCB4):c.2905C>T (p.Arg969Cys) rs748571017 0.00010
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220 0.00009
NM_000443.4(ABCB4):c.3013G>A (p.Ala1005Thr) rs531111327 0.00009
NM_000443.4(ABCB4):c.1910T>A (p.Ile637Asn) rs202167250 0.00008
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) rs368458295 0.00008
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met) rs746166913 0.00007
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000443.4(ABCB4):c.1603G>A (p.Gly535Ser) rs762036555 0.00006
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=) rs148865252 0.00006
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00006
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431 0.00006
NM_000443.4(ABCB4):c.3451G>A (p.Ala1151Thr) rs138850786 0.00006
NM_000443.4(ABCB4):c.1481G>A (p.Arg494His) rs753652201 0.00005
NM_000443.4(ABCB4):c.280T>C (p.Phe94Leu) rs567483147 0.00005
NM_000443.4(ABCB4):c.302C>T (p.Ser101Leu) rs182989205 0.00005
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464 0.00005
NM_000443.4(ABCB4):c.438C>T (p.Ile146=) rs776179529 0.00005
NM_000443.4(ABCB4):c.1356+10A>G rs374723850 0.00004
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) rs143456575 0.00004
NM_000443.4(ABCB4):c.2581T>G (p.Leu861Val) rs112610863 0.00004
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) rs1037196284 0.00003
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=) rs371013005 0.00003
NM_000443.4(ABCB4):c.2936C>A (p.Ala979Glu) rs374711909 0.00003
NM_000443.4(ABCB4):c.3131C>T (p.Pro1044Leu) rs371152960 0.00003
NM_000443.4(ABCB4):c.3415G>T (p.Val1139Leu) rs1035550970 0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val) rs765478923 0.00003
NM_000443.4(ABCB4):c.1563A>G (p.Lys521=) rs751681894 0.00002
NM_000443.4(ABCB4):c.1592C>T (p.Ala531Val) rs144302326 0.00002
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354 0.00002
NM_000443.4(ABCB4):c.2435C>A (p.Ala812Glu) rs768524721 0.00002
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=) rs1461886025 0.00002
NM_000443.4(ABCB4):c.2863T>G (p.Cys955Gly) rs1289876112 0.00002
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) rs886062459 0.00002
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494 0.00002
NM_000443.4(ABCB4):c.3565C>G (p.Leu1189Val) rs766672265 0.00002
NM_000443.4(ABCB4):c.3664G>A (p.Glu1222Lys) rs752080958 0.00002
NM_000443.4(ABCB4):c.3676T>G (p.Cys1226Gly) rs769306313 0.00002
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) rs774347020 0.00002
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) rs770169131 0.00002
NM_000443.4(ABCB4):c.1004C>G (p.Thr335Arg) rs1562983085 0.00001
NM_000443.4(ABCB4):c.1006-1G>T rs772823352 0.00001
NM_000443.4(ABCB4):c.1060A>G (p.Ile354Val) rs1432272679 0.00001
NM_000443.4(ABCB4):c.1063G>A (p.Asp355Asn) rs1216385209 0.00001
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323 0.00001
NM_000443.4(ABCB4):c.1119T>C (p.Asn373=) rs1219097474 0.00001
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) rs886894962 0.00001
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln) rs763807769 0.00001
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=) rs916276498 0.00001
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) rs761918535 0.00001
NM_000443.4(ABCB4):c.1285G>A (p.Gly429Arg) rs374007494 0.00001
NM_000443.4(ABCB4):c.1415T>C (p.Ile472Thr) rs749651405 0.00001
NM_000443.4(ABCB4):c.1560+6G>A rs200043060 0.00001
NM_000443.4(ABCB4):c.1646G>A (p.Arg549His) rs761238221 0.00001
NM_000443.4(ABCB4):c.1651C>A (p.Pro551Thr) rs374746433 0.00001
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) rs748044865 0.00001
NM_000443.4(ABCB4):c.174G>A (p.Ser58=) rs772771936 0.00001
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) rs367709575 0.00001
NM_000443.4(ABCB4):c.2000C>T (p.Thr667Ile) rs756777858 0.00001
NM_000443.4(ABCB4):c.2011C>T (p.Leu671Phe) rs763768493 0.00001
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=) rs763404399 0.00001
NM_000443.4(ABCB4):c.2289T>G (p.Ile763Met) rs777880618 0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) rs8187787 0.00001
NM_000443.4(ABCB4):c.263C>G (p.Thr88Ser) rs1417236795 0.00001
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=) rs978222245 0.00001
NM_000443.4(ABCB4):c.2899C>T (p.His967Tyr) rs575565764 0.00001
NM_000443.4(ABCB4):c.3001A>G (p.Lys1001Glu) rs1476260159 0.00001
NM_000443.4(ABCB4):c.3004C>T (p.Leu1002=) rs1242439596 0.00001
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) rs1297237099 0.00001
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) rs8187807 0.00001
NM_000443.4(ABCB4):c.3179A>C (p.Lys1060Thr) rs373011908 0.00001
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) rs754565782 0.00001
NM_000443.4(ABCB4):c.3247G>A (p.Glu1083Lys) rs761598845 0.00001
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=) rs1435564748 0.00001
NM_000443.4(ABCB4):c.3280-9G>A rs200617059 0.00001
NM_000443.4(ABCB4):c.3299C>T (p.Ala1100Val) rs1439704366 0.00001
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys) rs757931203 0.00001
NM_000443.4(ABCB4):c.3337G>A (p.Gly1113Arg) rs1282338773 0.00001
NM_000443.4(ABCB4):c.3347C>G (p.Ser1116Cys) rs373338470 0.00001
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) rs747453583 0.00001
NM_000443.4(ABCB4):c.3431T>C (p.Ile1144Thr) rs372427470 0.00001
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) rs370310867 0.00001
NM_000443.4(ABCB4):c.3633+9G>A rs1554396917 0.00001
NM_000443.4(ABCB4):c.3811A>C (p.Ser1271Arg) rs768236469 0.00001
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg) rs754770911 0.00001
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln) rs863225299 0.00001
NM_000443.4(ABCB4):c.476G>A (p.Arg159Gln) rs1269792276 0.00001
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met) rs753318087 0.00001
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) rs756070393 0.00001
NM_000443.4(ABCB4):c.910G>T (p.Ala304Ser) rs773840926 0.00001
NM_000443.4(ABCB4):c.911C>A (p.Ala304Asp) rs374836252 0.00001
NM_000443.4(ABCB4):c.928G>A (p.Ala310Thr) rs747932250 0.00001
NM_000443.4(ABCB4):c.997G>A (p.Ala333Thr) rs780152646 0.00001
NM_000443.4(ABCB4):c.1005+3A>G rs1811389784
NM_000443.4(ABCB4):c.1007T>C (p.Val336Ala)
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) rs753104429
NM_000443.4(ABCB4):c.101_102delinsAA (p.Thr34Lys) rs1554417370
NM_000443.4(ABCB4):c.102G>T (p.Thr34=) rs1277340029
NM_000443.4(ABCB4):c.1033T>G (p.Phe345Val)
NM_000443.4(ABCB4):c.1043G>C (p.Gly348Ala) rs1562981176
NM_000443.4(ABCB4):c.1069T>A (p.Phe357Ile)
NM_000443.4(ABCB4):c.1073C>A (p.Ala358Asp) rs1057518413
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) rs1813502867
NM_000443.4(ABCB4):c.1120-8T>A rs1554407521
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=) rs1811153797
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser) rs863225298
NM_000443.4(ABCB4):c.122G>C (p.Gly41Ala) rs2116986462
NM_000443.4(ABCB4):c.1230+3A>G rs1562979557
NM_000443.4(ABCB4):c.1237A>G (p.Lys413Glu)
NM_000443.4(ABCB4):c.1271C>T (p.Thr424Met)
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) rs1811115234
NM_000443.4(ABCB4):c.1296_1301del (p.Cys433_Gly434del)
NM_000443.4(ABCB4):c.1298G>A (p.Cys433Tyr)
NM_000443.4(ABCB4):c.134T>C (p.Leu45Ser)
NM_000443.4(ABCB4):c.135+26A>G
NM_000443.4(ABCB4):c.135+3688_135+3689insTTTATTTATTTTATTTTATTTTATATTATTTTTATCTTAT
NM_000443.4(ABCB4):c.1366G>T (p.Asp456Tyr) rs2116690992
NM_000443.4(ABCB4):c.1373A>C (p.Gln458Pro) rs1554406652
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe) rs1562976422
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=) rs771303478
NM_000443.4(ABCB4):c.1442T>G (p.Leu481Arg)
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_000443.4(ABCB4):c.1472G>T (p.Cys491Phe) rs750188186
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) rs8187789
NM_000443.4(ABCB4):c.1529A>T (p.Asn510Ile)
NM_000443.4(ABCB4):c.1577T>G (p.Val526Gly) rs1554406429
NM_000443.4(ABCB4):c.1595A>G (p.Gln532Arg)
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.1650C>A (p.Asn550Lys)
NM_000443.4(ABCB4):c.1672G>A (p.Glu558Lys) rs1562975478
NM_000443.4(ABCB4):c.1678A>G (p.Thr560Ala)
NM_000443.4(ABCB4):c.1679C>T (p.Thr560Met)
NM_000443.4(ABCB4):c.1739A>G (p.Glu580Gly)
NM_000443.4(ABCB4):c.1792G>A (p.Asp598Asn)
NM_000443.4(ABCB4):c.179G>T (p.Gly60Val) rs1562998632
NM_000443.4(ABCB4):c.1817G>T (p.Gly606Val) rs886043723
NM_000443.4(ABCB4):c.1834G>A (p.Gly612Arg) rs886044649
NM_000443.4(ABCB4):c.1855AAG[1] (p.Lys620del) rs774102354
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460
NM_000443.4(ABCB4):c.1864G>T (p.Gly622Trp) rs1562968700
NM_000443.4(ABCB4):c.1865G>C (p.Gly622Ala)
NM_000443.4(ABCB4):c.1888A>G (p.Met630Val)
NM_000443.4(ABCB4):c.1895C>T (p.Thr632Ile) rs1554403476
NM_000443.4(ABCB4):c.1963C>G (p.Pro655Ala) rs550563139
NM_000443.4(ABCB4):c.1979C>T (p.Ser660Phe) rs1255030717
NM_000443.4(ABCB4):c.1987T>C (p.Phe663Leu)
NM_000443.4(ABCB4):c.2064+5G>A
NM_000443.4(ABCB4):c.207A>G (p.Ser69=) rs914166042
NM_000443.4(ABCB4):c.2113A>G (p.Lys705Glu) rs1562963002
NM_000443.4(ABCB4):c.212T>A (p.Leu71His)
NM_000443.4(ABCB4):c.2137G>T (p.Val713Leu) rs373122168
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His) rs1809631786
NM_000443.4(ABCB4):c.2191A>G (p.Ile731Val) rs200949614
NM_000443.4(ABCB4):c.2194T>C (p.Phe732Leu)
NM_000443.4(ABCB4):c.2198C>T (p.Ser733Leu) rs759894200
NM_000443.4(ABCB4):c.2212-5T>A rs1554402258
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu) rs1265968550
NM_000443.4(ABCB4):c.2227G>A (p.Asp743Asn)
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) rs1809490932
NM_000443.4(ABCB4):c.2260T>C (p.Phe754Leu) rs1156521640
NM_000443.4(ABCB4):c.2275T>A (p.Leu759Ile)
NM_000443.4(ABCB4):c.2287A>T (p.Ile763Phe)
NM_000443.4(ABCB4):c.2294C>A (p.Ser765Tyr) rs2116513004
NM_000443.4(ABCB4):c.2303C>G (p.Thr768Ser)
NM_000443.4(ABCB4):c.2316G>A (p.Gln772=) rs1562961445
NM_000443.4(ABCB4):c.2317-1G>T
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val) rs1554401811
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) rs148865252
NM_000443.4(ABCB4):c.2341G>A (p.Glu781Lys)
NM_000443.4(ABCB4):c.2371G>T (p.Ala791Ser)
NM_000443.4(ABCB4):c.2393A>C (p.Gln798Pro)
NM_000443.4(ABCB4):c.2401A>T (p.Ser801Cys)
NM_000443.4(ABCB4):c.2413G>A (p.Asp805Asn)
NM_000443.4(ABCB4):c.2422A>G (p.Asn808Asp) rs1809166231
NM_000443.4(ABCB4):c.2453C>A (p.Ala818Asp)
NM_000443.4(ABCB4):c.2477G>A (p.Gly826Glu) rs749444322
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.2505T>G (p.Ile835Met)
NM_000443.4(ABCB4):c.2534G>T (p.Gly845Val)
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) rs764913373
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) rs1809055658
NM_000443.4(ABCB4):c.2618T>C (p.Val873Ala)
NM_000443.4(ABCB4):c.2625G>A (p.Met875Ile) rs886043727
NM_000443.4(ABCB4):c.2678G>A (p.Gly893Glu)
NM_000443.4(ABCB4):c.2687C>A (p.Ala896Glu) rs1562955105
NM_000443.4(ABCB4):c.2699T>C (p.Ile900Thr) rs1562955080
NM_000443.4(ABCB4):c.2703A>G (p.Glu901=) rs755881772
NM_000443.4(ABCB4):c.2704A>G (p.Asn902Asp)
NM_000443.4(ABCB4):c.2708_2710del (p.Ile903del) rs886044705
NM_000443.4(ABCB4):c.2718_2720del (p.Val907del) rs1562955015
NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly) rs2116424316
NM_000443.4(ABCB4):c.2817T>G (p.Ile939Met)
NM_000443.4(ABCB4):c.2828_2829delinsAT (p.Ile943Asn) rs1562953769
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2876G>C (p.Gly959Ala)
NM_000443.4(ABCB4):c.2878G>A (p.Ala960Thr) rs2116405917
NM_000443.4(ABCB4):c.2887A>G (p.Ile963Val)
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_000443.4(ABCB4):c.3041A>G (p.Gln1014Arg)
NM_000443.4(ABCB4):c.3050T>C (p.Ile1017Thr)
NM_000443.4(ABCB4):c.3148C>T (p.Pro1050Ser)
NM_000443.4(ABCB4):c.3149C>T (p.Pro1050Leu) rs1554398481
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
NM_000443.4(ABCB4):c.3193C>G (p.Leu1065Val)
NM_000443.4(ABCB4):c.3215G>T (p.Gly1072Val)
NM_000443.4(ABCB4):c.3227G>A (p.Ser1076Asn) rs1554398434
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=) rs1562950567
NM_000443.4(ABCB4):c.3250C>T (p.Arg1084Trp) rs1262922848
NM_000443.4(ABCB4):c.3268G>C (p.Ala1090Pro) rs1562950481
NM_000443.4(ABCB4):c.3279+5G>A rs1562950443
NM_000443.4(ABCB4):c.3280-23A>G
NM_000443.4(ABCB4):c.3280-8G>T rs1808206321
NM_000443.4(ABCB4):c.3286G>A (p.Asp1096Asn)
NM_000443.4(ABCB4):c.328GAA[2] (p.Glu112del)
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg) rs1808202820
NM_000443.4(ABCB4):c.3334C>G (p.Leu1112Val) rs886044706
NM_000443.4(ABCB4):c.3350A>G (p.Gln1117Arg)
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn) rs866301089
NM_000443.4(ABCB4):c.3371G>A (p.Cys1124Tyr) rs886044199
NM_000443.4(ABCB4):c.3434T>C (p.Val1145Ala) rs1562948881
NM_000443.4(ABCB4):c.3436A>C (p.Ser1146Arg) rs886044011
NM_000443.4(ABCB4):c.344+4A>G rs1584768888
NM_000443.4(ABCB4):c.3469_3471del (p.Ile1157del) rs1554397785
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370
NM_000443.4(ABCB4):c.3488A>T (p.Lys1163Ile) rs1562946659
NM_000443.4(ABCB4):c.3497C>G (p.Thr1166Arg)
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) rs1807938184
NM_000443.4(ABCB4):c.3533G>T (p.Gly1178Val) rs886043650
NM_000443.4(ABCB4):c.3544A>T (p.Arg1182Trp) rs913621236
NM_000443.4(ABCB4):c.3559C>G (p.Arg1187Gly)
NM_000443.4(ABCB4):c.3577C>A (p.Pro1193Thr) rs1562946432
NM_000443.4(ABCB4):c.3597T>A (p.Asp1199Glu)
NM_000443.4(ABCB4):c.3643G>A (p.Glu1215Lys)
NM_000443.4(ABCB4):c.3659C>A (p.Ala1220Asp) rs2116296479
NM_000443.4(ABCB4):c.3680T>G (p.Ile1227Ser)
NM_000443.4(ABCB4):c.3692A>G (p.His1231Arg) rs2116295930
NM_000443.4(ABCB4):c.3694C>T (p.Arg1232Cys)
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) rs1160711086
NM_000443.4(ABCB4):c.370G>T (p.Gly124Cys) rs1562989807
NM_000443.4(ABCB4):c.3737A>C (p.Gln1246Pro)
NM_000443.4(ABCB4):c.376G>A (p.Gly126Arg)
NM_000443.4(ABCB4):c.377G>A (p.Gly126Glu) rs1021988376
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=) rs1029350022
NM_000443.4(ABCB4):c.398T>C (p.Ile133Thr) rs200544332
NM_000443.4(ABCB4):c.400C>A (p.Gln134Lys)
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) rs542995265
NM_000443.4(ABCB4):c.536+9A>G rs1562989394
NM_000443.4(ABCB4):c.577G>A (p.Gly193Arg) rs1554409845
NM_000443.4(ABCB4):c.620T>C (p.Ile207Thr) rs2116802789
NM_000443.4(ABCB4):c.709A>T (p.Ile237Leu) rs201611454
NM_000443.4(ABCB4):c.718G>A (p.Ala240Thr)
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg) rs551234479
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg) rs551234479
NM_000443.4(ABCB4):c.809G>A (p.Gly270Glu)
NM_000443.4(ABCB4):c.833G>A (p.Arg278Lys) rs1554409350
NM_000443.4(ABCB4):c.875A>G (p.Lys292Arg)
NM_000443.4(ABCB4):c.899C>A (p.Ser300Tyr)
NM_000443.4(ABCB4):c.916C>A (p.Leu306Met)
NM_000443.4(ABCB4):c.924A>G (p.Ile308Met)
NM_000443.4(ABCB4):c.979G>A (p.Glu327Lys) rs1562983147

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