ClinVar Miner

List of variants in gene ABCB4 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 395
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.1005+98A>G rs45505300 0.01341
NM_000443.4(ABCB4):c.136-74C>T rs115043985 0.01329
NM_000443.4(ABCB4):c.136-81del rs149935119 0.01327
NM_000443.4(ABCB4):c.1356+26A>G rs45505699 0.01051
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.80+114G>C rs45619531 0.00796
NM_000443.4(ABCB4):c.1732-39A>G rs141424866 0.00781
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.2924+92del rs371806200 0.00574
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_000443.4(ABCB4):c.3633+84A>G rs45552036 0.00459
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
NM_000443.4(ABCB4):c.536+11T>C rs8187790 0.00315
NM_000443.4(ABCB4):c.2395-19C>T rs45593648 0.00260
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055 0.00177
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.696C>T (p.Ala232=) rs8187791 0.00068
NM_000443.4(ABCB4):c.2394+13G>A rs370406753 0.00058
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000443.4(ABCB4):c.1231-16C>T rs56229233 0.00037
NM_000443.4(ABCB4):c.1357-17A>G rs201173706 0.00037
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
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.3111T>C (p.Asn1037=) rs8187808 0.00019
NM_000443.4(ABCB4):c.366A>G (p.Gly122=) rs113445400 0.00016
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00016
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=) rs756982751 0.00009
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) rs368458295 0.00008
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=) rs148865252 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.438C>T (p.Ile146=) rs776179529 0.00005
NM_000443.4(ABCB4):c.1356+10A>G rs374723850 0.00004
NM_000443.4(ABCB4):c.1143A>G (p.Ser381=) rs142671969 0.00003
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=) rs371013005 0.00003
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354 0.00002
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=) rs1461886025 0.00002
NM_000443.4(ABCB4):c.3280-24T>C rs753672621 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.717G>A (p.Ser239=) rs770169131 0.00002
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323 0.00001
NM_000443.4(ABCB4):c.1230+15A>G rs1057522852 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.1560+16A>G rs769175596 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.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117 0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) rs8187787 0.00001
NM_000443.4(ABCB4):c.2619T>G (p.Val873=) rs775357102 0.00001
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=) rs978222245 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.3258C>T (p.Tyr1086=) rs1435564748 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.807C>T (p.Phe269=) rs1421517860 0.00001
NM_000443.4(ABCB4):c.996T>C (p.Asn332=) rs1388323440 0.00001
NM_000443.4(ABCB4):c.1005+18C>T
NM_000443.4(ABCB4):c.1005+19A>G
NM_000443.4(ABCB4):c.1005+9T>C
NM_000443.4(ABCB4):c.1006-117del rs147821186
NM_000443.4(ABCB4):c.1006-17C>A
NM_000443.4(ABCB4):c.1006-17C>G
NM_000443.4(ABCB4):c.1006-6del
NM_000443.4(ABCB4):c.1029A>G (p.Gly343=)
NM_000443.4(ABCB4):c.1119+11T>G
NM_000443.4(ABCB4):c.1119+12A>G
NM_000443.4(ABCB4):c.1119+16T>G
NM_000443.4(ABCB4):c.1119+7C>A
NM_000443.4(ABCB4):c.1119+8A>G
NM_000443.4(ABCB4):c.1120-11del
NM_000443.4(ABCB4):c.1120-4T>C
NM_000443.4(ABCB4):c.1179T>C (p.Asn393=)
NM_000443.4(ABCB4):c.1180T>C (p.Leu394=)
NM_000443.4(ABCB4):c.1200C>T (p.His400=)
NM_000443.4(ABCB4):c.1206T>A (p.Ser402=)
NM_000443.4(ABCB4):c.1230+18T>A
NM_000443.4(ABCB4):c.1230+18T>C
NM_000443.4(ABCB4):c.1230+7dup
NM_000443.4(ABCB4):c.1231-13A>G
NM_000443.4(ABCB4):c.1231-6T>A
NM_000443.4(ABCB4):c.1234T>C (p.Leu412=)
NM_000443.4(ABCB4):c.1272G>A (p.Thr424=)
NM_000443.4(ABCB4):c.1281G>A (p.Leu427=)
NM_000443.4(ABCB4):c.1302G>A (p.Gly434=)
NM_000443.4(ABCB4):c.132A>C (p.Thr44=)
NM_000443.4(ABCB4):c.1335C>G (p.Leu445=)
NM_000443.4(ABCB4):c.1335C>T (p.Leu445=)
NM_000443.4(ABCB4):c.133T>C (p.Leu45=)
NM_000443.4(ABCB4):c.135+12A>T
NM_000443.4(ABCB4):c.135+15G>A
NM_000443.4(ABCB4):c.135+16T>A
NM_000443.4(ABCB4):c.135+20A>T
NM_000443.4(ABCB4):c.135+9T>A
NM_000443.4(ABCB4):c.1356+16C>A
NM_000443.4(ABCB4):c.1356+19G>A
NM_000443.4(ABCB4):c.1357-10T>C
NM_000443.4(ABCB4):c.1357-13T>C
NM_000443.4(ABCB4):c.1357-17A>T
NM_000443.4(ABCB4):c.1377T>C (p.Asp459=)
NM_000443.4(ABCB4):c.1392T>C (p.Asn464=)
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=) rs771303478
NM_000443.4(ABCB4):c.1437G>A (p.Pro479=)
NM_000443.4(ABCB4):c.1443G>A (p.Leu481=)
NM_000443.4(ABCB4):c.1449C>T (p.Ser483=)
NM_000443.4(ABCB4):c.1467T>C (p.Asn489=)
NM_000443.4(ABCB4):c.1491A>G (p.Val497=)
NM_000443.4(ABCB4):c.1530C>T (p.Asn510=)
NM_000443.4(ABCB4):c.1533C>G (p.Ala511=)
NM_000443.4(ABCB4):c.1560+11del
NM_000443.4(ABCB4):c.1560+20A>G
NM_000443.4(ABCB4):c.1561-11_1561-10del
NM_000443.4(ABCB4):c.1572C>G (p.Thr524=)
NM_000443.4(ABCB4):c.1614G>A (p.Lys538=)
NM_000443.4(ABCB4):c.1623C>T (p.Ile541=)
NM_000443.4(ABCB4):c.165G>A (p.Leu55=)
NM_000443.4(ABCB4):c.1665G>A (p.Leu555=)
NM_000443.4(ABCB4):c.1668G>C (p.Leu556=)
NM_000443.4(ABCB4):c.1677C>T (p.Ala559=)
NM_000443.4(ABCB4):c.1680G>A (p.Thr560=)
NM_000443.4(ABCB4):c.1683A>G (p.Ser561=)
NM_000443.4(ABCB4):c.1686A>G (p.Ala562=)
NM_000443.4(ABCB4):c.1687T>C (p.Leu563=)
NM_000443.4(ABCB4):c.1692C>T (p.Asp564=)
NM_000443.4(ABCB4):c.1698A>G (p.Glu566=)
NM_000443.4(ABCB4):c.1731+14A>G
NM_000443.4(ABCB4):c.1731+18A>C
NM_000443.4(ABCB4):c.1731+19G>C
NM_000443.4(ABCB4):c.1732-13T>G
NM_000443.4(ABCB4):c.1732-7C>T
NM_000443.4(ABCB4):c.1734C>T (p.Ala578=)
NM_000443.4(ABCB4):c.1767C>T (p.His589=)
NM_000443.4(ABCB4):c.1779G>A (p.Thr593=)
NM_000443.4(ABCB4):c.1800C>T (p.Ile600=)
NM_000443.4(ABCB4):c.1806G>A (p.Gly602=)
NM_000443.4(ABCB4):c.1815T>C (p.Asp605=)
NM_000443.4(ABCB4):c.1833A>G (p.Gln611=)
NM_000443.4(ABCB4):c.1845C>T (p.Ser615=)
NM_000443.4(ABCB4):c.1849C>T (p.Leu617=)
NM_000443.4(ABCB4):c.1866G>C (p.Gly622=)
NM_000443.4(ABCB4):c.1869G>A (p.Val623=)
NM_000443.4(ABCB4):c.1893+16G>C
NM_000443.4(ABCB4):c.1893+18A>T
NM_000443.4(ABCB4):c.1893+8C>T
NM_000443.4(ABCB4):c.1894-10A>G
NM_000443.4(ABCB4):c.1894-8T>C
NM_000443.4(ABCB4):c.1894-9T>C
NM_000443.4(ABCB4):c.1896A>T (p.Thr632=)
NM_000443.4(ABCB4):c.1950C>T (p.Ala650=)
NM_000443.4(ABCB4):c.1953T>C (p.Thr651=)
NM_000443.4(ABCB4):c.2058T>C (p.Asp686=)
NM_000443.4(ABCB4):c.2064+8G>A
NM_000443.4(ABCB4):c.2065-15G>A
NM_000443.4(ABCB4):c.2065-16T>C
NM_000443.4(ABCB4):c.2065-4C>T
NM_000443.4(ABCB4):c.2073T>C (p.Asn691=)
NM_000443.4(ABCB4):c.207A>G (p.Ser69=) rs914166042
NM_000443.4(ABCB4):c.2082A>G (p.Pro694=)
NM_000443.4(ABCB4):c.2097G>A (p.Lys699=)
NM_000443.4(ABCB4):c.2100C>G (p.Val700=)
NM_000443.4(ABCB4):c.2103G>A (p.Leu701=)
NM_000443.4(ABCB4):c.2112T>C (p.Asn704=)
NM_000443.4(ABCB4):c.2118A>C (p.Thr706=)
NM_000443.4(ABCB4):c.2136C>T (p.Val712=)
NM_000443.4(ABCB4):c.213C>A (p.Leu71=)
NM_000443.4(ABCB4):c.213C>T (p.Leu71=)
NM_000443.4(ABCB4):c.2169G>A (p.Gly723=)
NM_000443.4(ABCB4):c.2178G>A (p.Pro726=)
NM_000443.4(ABCB4):c.2190C>T (p.Val730=)
NM_000443.4(ABCB4):c.2211+11A>T
NM_000443.4(ABCB4):c.2211+13A>T
NM_000443.4(ABCB4):c.2211+16C>A
NM_000443.4(ABCB4):c.2211+20A>G
NM_000443.4(ABCB4):c.2211+20A>T
NM_000443.4(ABCB4):c.2226C>T (p.Gly742=)
NM_000443.4(ABCB4):c.2232T>C (p.Asp744=)
NM_000443.4(ABCB4):c.2244G>A (p.Gln748=)
NM_000443.4(ABCB4):c.2274C>T (p.Phe758=)
NM_000443.4(ABCB4):c.2281C>T (p.Leu761=)
NM_000443.4(ABCB4):c.2316+12T>C
NM_000443.4(ABCB4):c.2316+14A>T
NM_000443.4(ABCB4):c.2316+20C>T
NM_000443.4(ABCB4):c.2317-16C>T
NM_000443.4(ABCB4):c.2317-17C>T
NM_000443.4(ABCB4):c.2317-9C>G
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.2343G>A (p.Glu781=)
NM_000443.4(ABCB4):c.2346C>A (p.Ile782=)
NM_000443.4(ABCB4):c.2382A>C (p.Ala794=)
NM_000443.4(ABCB4):c.2382A>G (p.Ala794=)
NM_000443.4(ABCB4):c.2394+12C>T
NM_000443.4(ABCB4):c.2395-18G>A
NM_000443.4(ABCB4):c.2395-18G>T
NM_000443.4(ABCB4):c.2430T>G (p.Thr810=)
NM_000443.4(ABCB4):c.2436A>G (p.Ala812=)
NM_000443.4(ABCB4):c.2478+15C>A
NM_000443.4(ABCB4):c.2478+7A>G
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.2479-18G>T
NM_000443.4(ABCB4):c.2479-20T>G
NM_000443.4(ABCB4):c.2484A>G (p.Thr828=)
NM_000443.4(ABCB4):c.2494T>C (p.Leu832=)
NM_000443.4(ABCB4):c.2556C>T (p.Tyr852=)
NM_000443.4(ABCB4):c.2575T>C (p.Leu859=)
NM_000443.4(ABCB4):c.2580A>C (p.Leu860=)
NM_000443.4(ABCB4):c.2580A>G (p.Leu860=)
NM_000443.4(ABCB4):c.2586A>G (p.Ala862=) rs1554400942
NM_000443.4(ABCB4):c.2679A>G (p.Gly893=)
NM_000443.4(ABCB4):c.2682+14G>A
NM_000443.4(ABCB4):c.2682+20A>T
NM_000443.4(ABCB4):c.2683-14A>G
NM_000443.4(ABCB4):c.2683-17T>C
NM_000443.4(ABCB4):c.2683-19G>A
NM_000443.4(ABCB4):c.2685T>C (p.Ile895=)
NM_000443.4(ABCB4):c.2694G>A (p.Glu898=)
NM_000443.4(ABCB4):c.2712G>A (p.Arg904=)
NM_000443.4(ABCB4):c.2751A>C (p.Ser917=)
NM_000443.4(ABCB4):c.2760T>C (p.Val920=)
NM_000443.4(ABCB4):c.2766A>G (p.Lys922=)
NM_000443.4(ABCB4):c.276C>T (p.Phe92=)
NM_000443.4(ABCB4):c.2783+11A>G
NM_000443.4(ABCB4):c.2783+13A>G
NM_000443.4(ABCB4):c.2783+9C>A
NM_000443.4(ABCB4):c.2784-16C>T
NM_000443.4(ABCB4):c.2784-20T>C
NM_000443.4(ABCB4):c.2787T>C (p.Asn929=)
NM_000443.4(ABCB4):c.279C>T (p.Ser93=)
NM_000443.4(ABCB4):c.2805C>T (p.His935=)
NM_000443.4(ABCB4):c.2823T>C (p.Phe941=)
NM_000443.4(ABCB4):c.2853C>G (p.Ser951=)
NM_000443.4(ABCB4):c.2859C>T (p.Ala953=)
NM_000443.4(ABCB4):c.286+11C>A
NM_000443.4(ABCB4):c.286+12T>C
NM_000443.4(ABCB4):c.291C>T (p.Asn97=)
NM_000443.4(ABCB4):c.2924+16A>C
NM_000443.4(ABCB4):c.2924+18T>G
NM_000443.4(ABCB4):c.2924+8G>A
NM_000443.4(ABCB4):c.2925-11C>T
NM_000443.4(ABCB4):c.2925-17C>A
NM_000443.4(ABCB4):c.2925-4C>A
NM_000443.4(ABCB4):c.2925-4C>G
NM_000443.4(ABCB4):c.2925-8C>T
NM_000443.4(ABCB4):c.2952A>C (p.Ala984=)
NM_000443.4(ABCB4):c.2959C>T (p.Leu987=)
NM_000443.4(ABCB4):c.2961A>G (p.Leu987=)
NM_000443.4(ABCB4):c.2967T>C (p.His989=)
NM_000443.4(ABCB4):c.297C>T (p.Ser99=)
NM_000443.4(ABCB4):c.2985A>C (p.Pro995=)
NM_000443.4(ABCB4):c.2994T>C (p.Ala998=)
NM_000443.4(ABCB4):c.3019T>C (p.Leu1007=)
NM_000443.4(ABCB4):c.3024C>T (p.Phe1008=)
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_000443.4(ABCB4):c.3063T>C (p.Ser1021=)
NM_000443.4(ABCB4):c.3081+14T>C
NM_000443.4(ABCB4):c.3081+7T>C
NM_000443.4(ABCB4):c.3082-10A>G
NM_000443.4(ABCB4):c.3082-179C>G rs45526441
NM_000443.4(ABCB4):c.3082-5T>C
NM_000443.4(ABCB4):c.3090T>C (p.Phe1030=)
NM_000443.4(ABCB4):c.309A>G (p.Leu103=)
NM_000443.4(ABCB4):c.3117C>T (p.Val1039=)
NM_000443.4(ABCB4):c.3135C>A (p.Thr1045=)
NM_000443.4(ABCB4):c.3141A>T (p.Ala1047=)
NM_000443.4(ABCB4):c.3162G>A (p.Gly1054=)
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
NM_000443.4(ABCB4):c.3174G>A (p.Glu1058=)
NM_000443.4(ABCB4):c.3186C>T (p.Gly1062=)
NM_000443.4(ABCB4):c.3193C>T (p.Leu1065=)
NM_000443.4(ABCB4):c.3207C>T (p.Gly1069=)
NM_000443.4(ABCB4):c.3210C>T (p.Ser1070=)
NM_000443.4(ABCB4):c.3213T>C (p.Ser1071=)
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=) rs1562950567
NM_000443.4(ABCB4):c.325C>T (p.Leu109=)
NM_000443.4(ABCB4):c.3270G>A (p.Ala1090=)
NM_000443.4(ABCB4):c.3273G>A (p.Gly1091=)
NM_000443.4(ABCB4):c.3276A>G (p.Thr1092=)
NM_000443.4(ABCB4):c.3279+13C>A
NM_000443.4(ABCB4):c.3279+16T>C
NM_000443.4(ABCB4):c.3309C>A (p.Leu1103=)
NM_000443.4(ABCB4):c.3315C>T (p.Val1105=)
NM_000443.4(ABCB4):c.3342C>T (p.Ile1114=)
NM_000443.4(ABCB4):c.3375C>T (p.Ser1125=)
NM_000443.4(ABCB4):c.3381C>G (p.Ala1127=)
NM_000443.4(ABCB4):c.3387T>C (p.Asn1129=)
NM_000443.4(ABCB4):c.3399A>G (p.Gly1133=)
NM_000443.4(ABCB4):c.3408C>T (p.Ser1136=)
NM_000443.4(ABCB4):c.342T>C (p.Thr114=)
NM_000443.4(ABCB4):c.344+11T>C
NM_000443.4(ABCB4):c.344+9T>C
NM_000443.4(ABCB4):c.3447A>G (p.Lys1149=)
NM_000443.4(ABCB4):c.345-12C>T
NM_000443.4(ABCB4):c.345-5T>G
NM_000443.4(ABCB4):c.345-65GAAAA[3] rs199500302
NM_000443.4(ABCB4):c.345-6T>C
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370
NM_000443.4(ABCB4):c.3478T>C (p.Leu1160=)
NM_000443.4(ABCB4):c.3486+10dup rs8187809
NM_000443.4(ABCB4):c.3486+13G>C
NM_000443.4(ABCB4):c.3486+9_3486+10del
NM_000443.4(ABCB4):c.3492T>C (p.Tyr1164=)
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) rs1807938184
NM_000443.4(ABCB4):c.354T>C (p.Tyr118=)
NM_000443.4(ABCB4):c.3582A>G (p.Gln1194=)
NM_000443.4(ABCB4):c.3585C>T (p.Ile1195=)
NM_000443.4(ABCB4):c.3592T>C (p.Leu1198=)
NM_000443.4(ABCB4):c.3621T>C (p.Thr1207=)
NM_000443.4(ABCB4):c.3633+10G>A
NM_000443.4(ABCB4):c.3633+16C>A
NM_000443.4(ABCB4):c.3633+19C>T
NM_000443.4(ABCB4):c.3642A>G (p.Gln1214=)
NM_000443.4(ABCB4):c.3651G>A (p.Leu1217=)
NM_000443.4(ABCB4):c.367T>C (p.Leu123=)
NM_000443.4(ABCB4):c.3705C>T (p.Thr1235=)
NM_000443.4(ABCB4):c.3732G>T (p.Val1244=)
NM_000443.4(ABCB4):c.3744G>A (p.Gly1248=)
NM_000443.4(ABCB4):c.3765G>A (p.Thr1255=)
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=) rs1029350022
NM_000443.4(ABCB4):c.396T>C (p.Tyr132=)
NM_000443.4(ABCB4):c.411T>C (p.Phe137=)
NM_000443.4(ABCB4):c.429T>C (p.Gly143=)
NM_000443.4(ABCB4):c.453G>A (p.Gln151=)
NM_000443.4(ABCB4):c.468T>C (p.Ala156=)
NM_000443.4(ABCB4):c.513T>A (p.Thr171=)
NM_000443.4(ABCB4):c.536+17T>C
NM_000443.4(ABCB4):c.536+18G>A
NM_000443.4(ABCB4):c.536+19T>C
NM_000443.4(ABCB4):c.537-16G>A
NM_000443.4(ABCB4):c.537-7T>C
NM_000443.4(ABCB4):c.552C>T (p.Ile184=)
NM_000443.4(ABCB4):c.564T>C (p.Ile188=)
NM_000443.4(ABCB4):c.603G>A (p.Thr201=)
NM_000443.4(ABCB4):c.639A>T (p.Gly213=)
NM_000443.4(ABCB4):c.651C>G (p.Thr217=)
NM_000443.4(ABCB4):c.66A>G (p.Glu22=)
NM_000443.4(ABCB4):c.675T>C (p.Pro225=)
NM_000443.4(ABCB4):c.675T>G (p.Pro225=)
NM_000443.4(ABCB4):c.690T>G (p.Ser230=)
NM_000443.4(ABCB4):c.69G>A (p.Leu23=)
NM_000443.4(ABCB4):c.708+11G>A
NM_000443.4(ABCB4):c.708+16G>T
NM_000443.4(ABCB4):c.708+7G>A
NM_000443.4(ABCB4):c.709-13C>A
NM_000443.4(ABCB4):c.709-13C>G
NM_000443.4(ABCB4):c.709-17G>C
NM_000443.4(ABCB4):c.709-19C>T
NM_000443.4(ABCB4):c.709-20A>G
NM_000443.4(ABCB4):c.709-5T>A rs1250758488
NM_000443.4(ABCB4):c.709-7T>C
NM_000443.4(ABCB4):c.741T>C (p.Ala247=)
NM_000443.4(ABCB4):c.747T>C (p.Tyr249=)
NM_000443.4(ABCB4):c.759C>T (p.Gly253=)
NM_000443.4(ABCB4):c.762C>A (p.Ala254=)
NM_000443.4(ABCB4):c.762C>T (p.Ala254=)
NM_000443.4(ABCB4):c.771A>G (p.Glu257=)
NM_000443.4(ABCB4):c.777T>A (p.Ala259=)
NM_000443.4(ABCB4):c.783G>A (p.Gly261=)
NM_000443.4(ABCB4):c.792G>A (p.Arg264=)
NM_000443.4(ABCB4):c.795T>C (p.Thr265=)
NM_000443.4(ABCB4):c.80+13C>A
NM_000443.4(ABCB4):c.80+15G>A
NM_000443.4(ABCB4):c.80+16C>T
NM_000443.4(ABCB4):c.80+20T>A
NM_000443.4(ABCB4):c.80+7C>A
NM_000443.4(ABCB4):c.80+7C>T
NM_000443.4(ABCB4):c.80+8C>T
NM_000443.4(ABCB4):c.81-13C>G
NM_000443.4(ABCB4):c.81-16A>C
NM_000443.4(ABCB4):c.810G>A (p.Gly270=)
NM_000443.4(ABCB4):c.816G>A (p.Gln272=)
NM_000443.4(ABCB4):c.833+11T>A
NM_000443.4(ABCB4):c.833+7A>G
NM_000443.4(ABCB4):c.834-8T>A
NM_000443.4(ABCB4):c.849A>G (p.Leu283=)
NM_000443.4(ABCB4):c.879A>G (p.Lys293=)
NM_000443.4(ABCB4):c.906T>C (p.Gly302=)
NM_000443.4(ABCB4):c.930A>G (p.Ala310=)
NM_000443.4(ABCB4):c.945C>G (p.Ala315=)
NM_000443.4(ABCB4):c.957A>T (p.Gly319=)
NM_000443.4(ABCB4):c.966A>C (p.Leu322=)
NM_000443.4(ABCB4):c.975A>G (p.Ser325=)
NM_000443.4(ABCB4):c.987T>C (p.Thr329=)

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