ClinVar Miner

List of variants in gene ABCC6 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 515
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_001171.6(ABCC6):c.662+12C>T rs1555520951 0.01842
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001171.6(ABCC6):c.474+13G>A rs111339199 0.01326
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) rs61266641 0.00789
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) rs61318127 0.00732
NM_001171.6(ABCC6):c.4042-29G>A rs60810627 0.00602
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.3980G>A (p.Gly1327Glu) rs57695665 0.00432
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_001171.6(ABCC6):c.2696G>A (p.Arg899His) rs116355959 0.00125
NM_001171.6(ABCC6):c.346-7C>T rs528654660 0.00111
NM_001171.6(ABCC6):c.1432-9C>T rs201633047 0.00108
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980 0.00098
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00086
NM_001171.6(ABCC6):c.1783C>T (p.Arg595Trp) rs150866831 0.00086
NM_001171.6(ABCC6):c.1636-20G>A rs200894424 0.00073
NM_001171.6(ABCC6):c.4208+8C>T rs56688069 0.00068
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001171.6(ABCC6):c.2628C>A (p.Gly876=) rs115379860 0.00057
NM_001171.6(ABCC6):c.3883-7C>T rs61097521 0.00052
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) rs59157279 0.00049
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg) rs114349489 0.00035
NM_001171.6(ABCC6):c.3507-15C>T rs374776435 0.00034
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) rs376210462 0.00033
NM_001171.6(ABCC6):c.2248-19G>C rs191392093 0.00032
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125 0.00027
NM_001171.6(ABCC6):c.3507-17G>A rs58571995 0.00026
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) rs913912489 0.00025
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) rs58494932 0.00024
NM_001171.6(ABCC6):c.4193G>A (p.Arg1398Gln) rs202080984 0.00019
NM_001171.6(ABCC6):c.1141T>C (p.Leu381=) rs72664284 0.00018
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met) rs542502733 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001171.6(ABCC6):c.1944-8G>A rs373223582 0.00016
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) rs534017491 0.00016
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) rs372132926 0.00015
NM_001171.6(ABCC6):c.2034G>A (p.Gly678=) rs761805973 0.00014
NM_001171.6(ABCC6):c.2788-13_2788-12del rs760411795 0.00014
NM_001171.6(ABCC6):c.2995+6C>T rs373896559 0.00014
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=) rs145693403 0.00014
NM_001171.6(ABCC6):c.1586G>A (p.Gly529Asp) rs199643353 0.00012
NM_001171.6(ABCC6):c.2916G>A (p.Ala972=) rs759516647 0.00012
NM_001171.6(ABCC6):c.1323C>T (p.Phe441=) rs200519199 0.00011
NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala) rs376062004 0.00011
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) rs114175094 0.00011
NM_001171.6(ABCC6):c.3495G>A (p.Leu1165=) rs1020931324 0.00010
NM_001171.6(ABCC6):c.4002G>C (p.Gly1334=) rs139128550 0.00010
NM_001171.6(ABCC6):c.2757A>G (p.Pro919=) rs140467297 0.00009
NM_001171.6(ABCC6):c.2973C>T (p.Phe991=) rs375767696 0.00009
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=) rs372041663 0.00009
NM_001171.6(ABCC6):c.3168C>T (p.Asp1056=) rs72657694 0.00009
NM_001171.6(ABCC6):c.3375C>T (p.Ser1125=) rs115364698 0.00009
NM_001171.6(ABCC6):c.345+10C>T rs768002646 0.00009
NM_001171.6(ABCC6):c.3735+9C>T rs199786977 0.00009
NM_001171.6(ABCC6):c.4209-8G>A rs536603858 0.00009
NM_001171.6(ABCC6):c.2982C>T (p.Leu994=) rs113270297 0.00008
NM_001171.6(ABCC6):c.3735+18G>A rs562368920 0.00008
NM_001171.6(ABCC6):c.4104C>T (p.Asp1368=) rs199668617 0.00008
NM_001171.6(ABCC6):c.1432-8G>A rs372692483 0.00007
NM_001171.6(ABCC6):c.1986C>T (p.Val662=) rs760798025 0.00007
NM_001171.6(ABCC6):c.3307-17C>G rs368254373 0.00007
NM_001171.6(ABCC6):c.1338+16A>C rs764198351 0.00006
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) rs145764775 0.00006
NM_001171.6(ABCC6):c.1842C>T (p.Val614=) rs375557810 0.00006
NM_001171.6(ABCC6):c.2745G>A (p.Arg915=) rs559575288 0.00006
NM_001171.6(ABCC6):c.2787+8C>T rs557287313 0.00006
NM_001171.6(ABCC6):c.3307-6T>C rs375271795 0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) rs553479685 0.00006
NM_001171.6(ABCC6):c.3489G>A (p.Pro1163=) rs202000035 0.00006
NM_001171.6(ABCC6):c.3725C>T (p.Thr1242Met) rs141449320 0.00006
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) rs559653607 0.00006
NM_001171.6(ABCC6):c.4404-5C>A rs58190361 0.00006
NM_001171.6(ABCC6):c.1943+17G>A rs746268859 0.00005
NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu) rs879274205 0.00005
NM_001171.6(ABCC6):c.109G>T (p.Val37Phe) rs557779326 0.00004
NM_001171.6(ABCC6):c.1155C>T (p.Ile385=) rs774597736 0.00004
NM_001171.6(ABCC6):c.1177-8C>A rs752742639 0.00004
NM_001171.6(ABCC6):c.1194C>T (p.Ser398=) rs376518465 0.00004
NM_001171.6(ABCC6):c.1473C>T (p.Thr491=) rs764676656 0.00004
NM_001171.6(ABCC6):c.2049G>A (p.Val683=) rs372511255 0.00004
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=) rs57866002 0.00004
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) rs770859081 0.00004
NM_001171.6(ABCC6):c.2478G>C (p.Leu826=) rs138026855 0.00004
NM_001171.6(ABCC6):c.2661C>T (p.Arg887=) rs376958386 0.00004
NM_001171.6(ABCC6):c.2730G>C (p.Leu910=) rs1006292323 0.00004
NM_001171.6(ABCC6):c.2763A>C (p.Gly921=) rs764693216 0.00004
NM_001171.6(ABCC6):c.2847C>T (p.Tyr949=) rs553008971 0.00004
NM_001171.6(ABCC6):c.3600C>T (p.Gly1200=) rs200132882 0.00004
NM_001171.6(ABCC6):c.3634-4C>T rs546587473 0.00004
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser) rs148326870 0.00004
NM_001171.6(ABCC6):c.3822C>T (p.Tyr1274=) rs769820268 0.00004
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) rs760304927 0.00004
NM_001171.6(ABCC6):c.4042-5G>A rs578175155 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4086G>A (p.Leu1362=) rs139978668 0.00004
NM_001171.6(ABCC6):c.1177-5G>A rs367827731 0.00003
NM_001171.6(ABCC6):c.1302C>T (p.Leu434=) rs760935787 0.00003
NM_001171.6(ABCC6):c.1636-8C>A rs766400634 0.00003
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=) rs767365625 0.00003
NM_001171.6(ABCC6):c.2259C>G (p.Leu753=) rs774043587 0.00003
NM_001171.6(ABCC6):c.2820T>G (p.Arg940=) rs72664286 0.00003
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) rs375741855 0.00003
NM_001171.6(ABCC6):c.4008C>T (p.His1336=) rs146265944 0.00003
NM_001171.6(ABCC6):c.4042-15G>A rs371489110 0.00003
NM_001171.6(ABCC6):c.890G>A (p.Arg297His) rs199729978 0.00003
NM_001171.6(ABCC6):c.1275C>G (p.Leu425=) rs201682224 0.00002
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) rs190761354 0.00002
NM_001171.6(ABCC6):c.1779+9G>T rs1212865583 0.00002
NM_001171.6(ABCC6):c.1780-17G>A rs547175985 0.00002
NM_001171.6(ABCC6):c.2238T>C (p.Ile746=) rs748098140 0.00002
NM_001171.6(ABCC6):c.258C>T (p.Ser86=) rs1216946994 0.00002
NM_001171.6(ABCC6):c.2591-15C>T rs749858819 0.00002
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) rs373335815 0.00002
NM_001171.6(ABCC6):c.2934T>C (p.Gly978=) rs748551497 0.00002
NM_001171.6(ABCC6):c.2946G>A (p.Thr982=) rs138410013 0.00002
NM_001171.6(ABCC6):c.3054G>A (p.Arg1018=) rs370805624 0.00002
NM_001171.6(ABCC6):c.3390G>A (p.Thr1130=) rs149775493 0.00002
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln) rs572351621 0.00002
NM_001171.6(ABCC6):c.3506+15G>A rs72664302 0.00002
NM_001171.6(ABCC6):c.3606G>A (p.Val1202=) rs766504801 0.00002
NM_001171.6(ABCC6):c.3644C>T (p.Thr1215Ile) rs764318423 0.00002
NM_001171.6(ABCC6):c.4209-18T>C rs781542001 0.00002
NM_001171.6(ABCC6):c.1177-17T>C rs928327177 0.00001
NM_001171.6(ABCC6):c.1361C>T (p.Thr454Ile) rs554886514 0.00001
NM_001171.6(ABCC6):c.1417A>C (p.Arg473=) rs939836975 0.00001
NM_001171.6(ABCC6):c.1593C>T (p.Leu531=) rs1431851402 0.00001
NM_001171.6(ABCC6):c.1638C>T (p.Val546=) rs1011923791 0.00001
NM_001171.6(ABCC6):c.1662C>T (p.His554=) rs777753626 0.00001
NM_001171.6(ABCC6):c.1707G>A (p.Val569=) rs760958976 0.00001
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047 0.00001
NM_001171.6(ABCC6):c.1780-18C>T rs754667289 0.00001
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=) rs747341864 0.00001
NM_001171.6(ABCC6):c.1956G>A (p.Thr652=) rs141399693 0.00001
NM_001171.6(ABCC6):c.2079G>A (p.Val693=) rs189252048 0.00001
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) rs199913903 0.00001
NM_001171.6(ABCC6):c.2121G>C (p.Val707=) rs778711523 0.00001
NM_001171.6(ABCC6):c.2343G>A (p.Ala781=) rs768106519 0.00001
NM_001171.6(ABCC6):c.2385C>T (p.Val795=) rs761484572 0.00001
NM_001171.6(ABCC6):c.2416-6G>A rs773390728 0.00001
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=) rs60990156 0.00001
NM_001171.6(ABCC6):c.2590+9T>C rs775583181 0.00001
NM_001171.6(ABCC6):c.2622C>T (p.Pro874=) rs750332089 0.00001
NM_001171.6(ABCC6):c.2666+10C>T rs1289193660 0.00001
NM_001171.6(ABCC6):c.2666+15G>A rs554746448 0.00001
NM_001171.6(ABCC6):c.2688G>A (p.Glu896=) rs771892138 0.00001
NM_001171.6(ABCC6):c.2799A>G (p.Thr933=) rs759128201 0.00001
NM_001171.6(ABCC6):c.2976G>C (p.Gly992=) rs1240073394 0.00001
NM_001171.6(ABCC6):c.2995+17C>T rs1175419062 0.00001
NM_001171.6(ABCC6):c.2996-16T>A rs763053937 0.00001
NM_001171.6(ABCC6):c.3039G>C (p.Gly1013=) rs1330004346 0.00001
NM_001171.6(ABCC6):c.3072C>T (p.Leu1024=) rs767464604 0.00001
NM_001171.6(ABCC6):c.3075G>A (p.Leu1025=) rs376087244 0.00001
NM_001171.6(ABCC6):c.3294C>T (p.Tyr1098=) rs371889155 0.00001
NM_001171.6(ABCC6):c.3307-16C>G rs745709089 0.00001
NM_001171.6(ABCC6):c.3345G>A (p.Leu1115=) rs763644344 0.00001
NM_001171.6(ABCC6):c.3405A>G (p.Thr1135=) rs780107077 0.00001
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) rs772396564 0.00001
NM_001171.6(ABCC6):c.3414G>C (p.Arg1138=) rs1218312833 0.00001
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=) rs746045818 0.00001
NM_001171.6(ABCC6):c.3507-14G>A rs1006071217 0.00001
NM_001171.6(ABCC6):c.3735+10G>A rs372710375 0.00001
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=) rs61294695 0.00001
NM_001171.6(ABCC6):c.3975C>T (p.Ile1325=) rs751220009 0.00001
NM_001171.6(ABCC6):c.4017C>T (p.Arg1339=) rs1329687909 0.00001
NM_001171.6(ABCC6):c.4023G>A (p.Arg1341=) rs2046492851 0.00001
NM_001171.6(ABCC6):c.4042-6C>T rs777894623 0.00001
NM_001171.6(ABCC6):c.4125G>C (p.Leu1375=) rs1224251243 0.00001
NM_001171.6(ABCC6):c.4140C>T (p.Leu1380=) rs368258006 0.00001
NM_001171.6(ABCC6):c.4449G>A (p.Pro1483=) rs776255682 0.00001
NM_001171.6(ABCC6):c.4458G>C (p.Leu1486=) rs768365514 0.00001
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) rs745761393 0.00001
NM_001171.6(ABCC6):c.474G>A (p.Ala158=) rs376219152 0.00001
GRCh37/hg19 16p13.11(chr16:16245334-16259284)x1
GRCh37/hg19 16p13.11(chr16:16248500-16261251)x1
GRCh37/hg19 16p13.11(chr16:16300012-16320879)x1
NM_001171.6(ABCC6):c.1077A>C (p.Ser359=) rs72664283
NM_001171.6(ABCC6):c.1176+6C>T rs72664295
NM_001171.6(ABCC6):c.1177-12C>T
NM_001171.6(ABCC6):c.1177-13G>T rs2152278569
NM_001171.6(ABCC6):c.1177-8C>T
NM_001171.6(ABCC6):c.117A>G (p.Val39=)
NM_001171.6(ABCC6):c.1186C>T (p.Leu396=)
NM_001171.6(ABCC6):c.1200C>T (p.Ser400=)
NM_001171.6(ABCC6):c.1209C>A (p.Ala403=) rs1596704087
NM_001171.6(ABCC6):c.1215G>A (p.Ala405=)
NM_001171.6(ABCC6):c.1224T>C (p.Asp408=) rs1596703976
NM_001171.6(ABCC6):c.1234C>T (p.Leu412=) rs755918422
NM_001171.6(ABCC6):c.1242C>T (p.Ser414=)
NM_001171.6(ABCC6):c.1269C>T (p.Ser423=)
NM_001171.6(ABCC6):c.1270G>A (p.Val424Ile)
NM_001171.6(ABCC6):c.1278C>T (p.Tyr426=)
NM_001171.6(ABCC6):c.1287G>T (p.Gly429=)
NM_001171.6(ABCC6):c.1290G>A (p.Leu430=) rs1567523122
NM_001171.6(ABCC6):c.1302C>G (p.Leu434=)
NM_001171.6(ABCC6):c.1311C>A (p.Ile437=) rs150075392
NM_001171.6(ABCC6):c.1311C>T (p.Ile437=)
NM_001171.6(ABCC6):c.1314G>A (p.Val438=) rs771349496
NM_001171.6(ABCC6):c.1317C>T (p.Val439=) rs2152278245
NM_001171.6(ABCC6):c.1338+11G>A
NM_001171.6(ABCC6):c.1338+13A>T rs888400819
NM_001171.6(ABCC6):c.1338+20C>T
NM_001171.6(ABCC6):c.1338+7C>A rs9940089
NM_001171.6(ABCC6):c.1339-13C>T
NM_001171.6(ABCC6):c.1339-19C>G
NM_001171.6(ABCC6):c.1339-4C>T rs2152272935
NM_001171.6(ABCC6):c.1339-5C>A rs2152272938
NM_001171.6(ABCC6):c.1339-8A>G rs1353567492
NM_001171.6(ABCC6):c.1347G>T (p.Gly449=) rs1403825556
NM_001171.6(ABCC6):c.1368C>G (p.Ile456Met) rs141309818
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) rs141309818
NM_001171.6(ABCC6):c.1371T>A (p.Ala457=) rs572266339
NM_001171.6(ABCC6):c.1374C>T (p.Val458=)
NM_001171.6(ABCC6):c.1386C>T (p.Leu462=)
NM_001171.6(ABCC6):c.1419G>A (p.Arg473=)
NM_001171.6(ABCC6):c.1432-13C>G rs1208460101
NM_001171.6(ABCC6):c.1432-13C>T
NM_001171.6(ABCC6):c.1432-22_1432-19del rs745345434
NM_001171.6(ABCC6):c.1432-24CT[2]
NM_001171.6(ABCC6):c.1432-4C>T
NM_001171.6(ABCC6):c.1432-5C>T rs2152270212
NM_001171.6(ABCC6):c.1444A>C (p.Arg482=)
NM_001171.6(ABCC6):c.1452G>A (p.Lys484=)
NM_001171.6(ABCC6):c.1461G>A (p.Arg487=)
NM_001171.6(ABCC6):c.1491C>T (p.Asn497=) rs72653770
NM_001171.6(ABCC6):c.1494G>A (p.Ser498=)
NM_001171.6(ABCC6):c.1545G>C (p.Leu515=)
NM_001171.6(ABCC6):c.1551C>T (p.Ile517=)
NM_001171.6(ABCC6):c.1552C>A (p.Arg518=)
NM_001171.6(ABCC6):c.1569C>T (p.Gly523=) rs145764775
NM_001171.6(ABCC6):c.1584C>T (p.Ser528=)
NM_001171.6(ABCC6):c.1605G>A (p.Ser535=)
NM_001171.6(ABCC6):c.1606C>T (p.Leu536=) rs770172306
NM_001171.6(ABCC6):c.1611G>A (p.Val537=) rs1486197417
NM_001171.6(ABCC6):c.1626T>C (p.Ser542=) rs2152269911
NM_001171.6(ABCC6):c.1635+7T>A rs533353511
NM_001171.6(ABCC6):c.1636-10C>G
NM_001171.6(ABCC6):c.1636-16C>T rs529292262
NM_001171.6(ABCC6):c.1636-18G>A rs760744820
NM_001171.6(ABCC6):c.1636-5C>G rs771552185
NM_001171.6(ABCC6):c.1636-7C>A
NM_001171.6(ABCC6):c.1636-7C>G rs763037164
NM_001171.6(ABCC6):c.1636-8C>T
NM_001171.6(ABCC6):c.1644G>A (p.Leu548=)
NM_001171.6(ABCC6):c.1647G>C (p.Val549=)
NM_001171.6(ABCC6):c.1674C>T (p.Ala558=)
NM_001171.6(ABCC6):c.1731C>T (p.Leu577=)
NM_001171.6(ABCC6):c.1749C>T (p.Phe583=)
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe)
NM_001171.6(ABCC6):c.1779+16G>A
NM_001171.6(ABCC6):c.1779+18G>A
NM_001171.6(ABCC6):c.1779+20T>C rs2152268418
NM_001171.6(ABCC6):c.1780-10G>T
NM_001171.6(ABCC6):c.1780-36T>A
NM_001171.6(ABCC6):c.1782C>A (p.Ala594=)
NM_001171.6(ABCC6):c.1815C>G (p.Leu605=)
NM_001171.6(ABCC6):c.1841_1842delinsCT (p.Val614Ala)
NM_001171.6(ABCC6):c.1867+13T>C
NM_001171.6(ABCC6):c.1868-16C>G
NM_001171.6(ABCC6):c.1868-16C>T rs781220256
NM_001171.6(ABCC6):c.1868-9G>A
NM_001171.6(ABCC6):c.1878G>A (p.Lys626=)
NM_001171.6(ABCC6):c.1881T>C (p.Asp627=)
NM_001171.6(ABCC6):c.1938C>T (p.Leu646=) rs578241312
NM_001171.6(ABCC6):c.1943+10G>A
NM_001171.6(ABCC6):c.1943+15C>A rs1596664130
NM_001171.6(ABCC6):c.1943+16del
NM_001171.6(ABCC6):c.1944-16C>T
NM_001171.6(ABCC6):c.1944-5T>C
NM_001171.6(ABCC6):c.1944-9C>T rs59385722
NM_001171.6(ABCC6):c.1953C>G (p.Leu651=)
NM_001171.6(ABCC6):c.1956G>C (p.Thr652=)
NM_001171.6(ABCC6):c.2004G>C (p.Gly668=)
NM_001171.6(ABCC6):c.2016G>A (p.Leu672=) rs1322533791
NM_001171.6(ABCC6):c.2017C>T (p.Leu673=) rs749625887
NM_001171.6(ABCC6):c.2022C>T (p.Ser674=)
NM_001171.6(ABCC6):c.2025C>A (p.Ala675=) rs1596657871
NM_001171.6(ABCC6):c.2043A>G (p.Ser681=)
NM_001171.6(ABCC6):c.2061G>A (p.Val687=)
NM_001171.6(ABCC6):c.2070+10C>T
NM_001171.6(ABCC6):c.2070+12C>T
NM_001171.6(ABCC6):c.2070+20G>C
NM_001171.6(ABCC6):c.2071-12G>A
NM_001171.6(ABCC6):c.2071-18A>C
NM_001171.6(ABCC6):c.2079G>T (p.Val693=)
NM_001171.6(ABCC6):c.2112C>T (p.Asn704=) rs2152258946
NM_001171.6(ABCC6):c.2124A>G (p.Val708=)
NM_001171.6(ABCC6):c.2151G>A (p.Leu717=)
NM_001171.6(ABCC6):c.2166G>A (p.Leu722=)
NM_001171.6(ABCC6):c.2169G>A (p.Glu723=)
NM_001171.6(ABCC6):c.2178A>G (p.Leu726=)
NM_001171.6(ABCC6):c.2229C>T (p.His743=)
NM_001171.6(ABCC6):c.2248-19G>A
NM_001171.6(ABCC6):c.2248-7G>A
NM_001171.6(ABCC6):c.2256T>C (p.Asn752=)
NM_001171.6(ABCC6):c.2262C>T (p.Ser754=)
NM_001171.6(ABCC6):c.2286C>T (p.Ser762=)
NM_001171.6(ABCC6):c.2316T>C (p.Ala772=)
NM_001171.6(ABCC6):c.2328G>A (p.Leu776=)
NM_001171.6(ABCC6):c.2334C>T (p.Asp778=) rs2152252560
NM_001171.6(ABCC6):c.2338C>T (p.Leu780=)
NM_001171.6(ABCC6):c.2397T>C (p.Gly799=) rs770859081
NM_001171.6(ABCC6):c.2403A>G (p.Leu801=)
NM_001171.6(ABCC6):c.2406C>T (p.Leu802=)
NM_001171.6(ABCC6):c.2415+11G>A
NM_001171.6(ABCC6):c.2416-10C>A
NM_001171.6(ABCC6):c.2416-5C>T
NM_001171.6(ABCC6):c.2427C>T (p.Leu809=)
NM_001171.6(ABCC6):c.2433G>A (p.Thr811=)
NM_001171.6(ABCC6):c.2436C>T (p.His812=)
NM_001171.6(ABCC6):c.2445C>T (p.His815=)
NM_001171.6(ABCC6):c.2448C>T (p.Ile816=)
NM_001171.6(ABCC6):c.2478G>A (p.Leu826=) rs138026855
NM_001171.6(ABCC6):c.2511C>T (p.Tyr837=)
NM_001171.6(ABCC6):c.2535G>A (p.Gly845=)
NM_001171.6(ABCC6):c.2590+13C>T
NM_001171.6(ABCC6):c.2591-13C>G
NM_001171.6(ABCC6):c.2604G>A (p.Gly868=)
NM_001171.6(ABCC6):c.2631C>T (p.Thr877=)
NM_001171.6(ABCC6):c.2644A>C (p.Arg882=)
NM_001171.6(ABCC6):c.2666+18C>T
NM_001171.6(ABCC6):c.2666+8C>G rs376554789
NM_001171.6(ABCC6):c.2667-9A>G
NM_001171.6(ABCC6):c.2670C>T (p.Ser890=)
NM_001171.6(ABCC6):c.2685T>G (p.Pro895=) rs760288790
NM_001171.6(ABCC6):c.2727T>C (p.Pro909=) rs2047173093
NM_001171.6(ABCC6):c.2736C>T (p.Asp912=)
NM_001171.6(ABCC6):c.2787+13_2787+16dup
NM_001171.6(ABCC6):c.2787+17C>A
NM_001171.6(ABCC6):c.2787+20A>G
NM_001171.6(ABCC6):c.2788-12T>C
NM_001171.6(ABCC6):c.2788-7G>A rs2152235920
NM_001171.6(ABCC6):c.2796C>A (p.Ala932=)
NM_001171.6(ABCC6):c.2796C>T (p.Ala932=)
NM_001171.6(ABCC6):c.2849C>T (p.Ala950Val)
NM_001171.6(ABCC6):c.2908C>T (p.Leu970=)
NM_001171.6(ABCC6):c.2919C>T (p.Asp973=)
NM_001171.6(ABCC6):c.2928A>C (p.Ala976=)
NM_001171.6(ABCC6):c.2934T>G (p.Gly978=)
NM_001171.6(ABCC6):c.2943G>A (p.Gln981=) rs368465318
NM_001171.6(ABCC6):c.2955C>A (p.Ala985=)
NM_001171.6(ABCC6):c.2964C>A (p.Gly988=)
NM_001171.6(ABCC6):c.2967G>C (p.Gly989=)
NM_001171.6(ABCC6):c.2995+12C>T
NM_001171.6(ABCC6):c.2995+14G>A
NM_001171.6(ABCC6):c.2995+20_2995+22del
NM_001171.6(ABCC6):c.2995+9C>T
NM_001171.6(ABCC6):c.2996-5C>T
NM_001171.6(ABCC6):c.2996-7_2996-4del
NM_001171.6(ABCC6):c.2996-9C>T
NM_001171.6(ABCC6):c.3003G>A (p.Gly1001=) rs971331274
NM_001171.6(ABCC6):c.3042C>T (p.Ala1014=)
NM_001171.6(ABCC6):c.3045G>A (p.Arg1015=)
NM_001171.6(ABCC6):c.3114G>T (p.Arg1038=) rs1475667555
NM_001171.6(ABCC6):c.3162G>A (p.Thr1054=)
NM_001171.6(ABCC6):c.3162G>T (p.Thr1054=) rs374140753
NM_001171.6(ABCC6):c.3195C>T (p.Ser1065=)
NM_001171.6(ABCC6):c.3264T>G (p.Thr1088=)
NM_001171.6(ABCC6):c.3279A>T (p.Pro1093=) rs1403370874
NM_001171.6(ABCC6):c.3282G>A (p.Leu1094=)
NM_001171.6(ABCC6):c.3291C>T (p.Leu1097=) rs1477555618
NM_001171.6(ABCC6):c.3306+14A>G
NM_001171.6(ABCC6):c.3306+7A>C
NM_001171.6(ABCC6):c.3306+8G>A
NM_001171.6(ABCC6):c.3307-10T>C
NM_001171.6(ABCC6):c.3307-5C>T rs781312345
NM_001171.6(ABCC6):c.3312G>C (p.Leu1104=)
NM_001171.6(ABCC6):c.3315T>C (p.Tyr1105=) rs1268592638
NM_001171.6(ABCC6):c.3318G>T (p.Val1106=)
NM_001171.6(ABCC6):c.3342C>A (p.Arg1114=)
NM_001171.6(ABCC6):c.336C>A (p.Leu112=) rs971059840
NM_001171.6(ABCC6):c.3435C>G (p.Pro1145=)
NM_001171.6(ABCC6):c.345+12T>C rs759993107
NM_001171.6(ABCC6):c.3453T>C (p.Asn1151=)
NM_001171.6(ABCC6):c.3483T>C (p.Ser1161=)
NM_001171.6(ABCC6):c.3506+12C>T
NM_001171.6(ABCC6):c.3506+20A>C rs1471090780
NM_001171.6(ABCC6):c.3506+21G>A
NM_001171.6(ABCC6):c.3506+22A>T
NM_001171.6(ABCC6):c.3522T>C (p.Asn1174=)
NM_001171.6(ABCC6):c.3525G>A (p.Val1175=)
NM_001171.6(ABCC6):c.3549G>A (p.Val1183=)
NM_001171.6(ABCC6):c.3567T>C (p.Cys1189=)
NM_001171.6(ABCC6):c.3579C>T (p.Ser1193=)
NM_001171.6(ABCC6):c.3603C>T (p.Leu1201=)
NM_001171.6(ABCC6):c.3618C>T (p.Val1206=)
NM_001171.6(ABCC6):c.3621T>C (p.Ser1207=)
NM_001171.6(ABCC6):c.3630C>T (p.Leu1210=)
NM_001171.6(ABCC6):c.3633+14C>G rs2152221821
NM_001171.6(ABCC6):c.3633+19A>G
NM_001171.6(ABCC6):c.3634-13T>C
NM_001171.6(ABCC6):c.3634-15G>A rs755947755
NM_001171.6(ABCC6):c.3634-15G>C
NM_001171.6(ABCC6):c.3634-15G>T
NM_001171.6(ABCC6):c.3634-17A>G
NM_001171.6(ABCC6):c.3634-20G>A
NM_001171.6(ABCC6):c.3639C>T (p.Thr1213=)
NM_001171.6(ABCC6):c.3675C>T (p.Asp1225=)
NM_001171.6(ABCC6):c.3684C>T (p.Asn1228=) rs2046647298
NM_001171.6(ABCC6):c.3690C>T (p.Ile1230=) rs368931767
NM_001171.6(ABCC6):c.3699G>A (p.Val1233=)
NM_001171.6(ABCC6):c.3726G>A (p.Thr1242=)
NM_001171.6(ABCC6):c.3732G>A (p.Lys1244=) rs773961518
NM_001171.6(ABCC6):c.3735+12G>C
NM_001171.6(ABCC6):c.3735+14G>A
NM_001171.6(ABCC6):c.3735+9C>A
NM_001171.6(ABCC6):c.3736-12C>G
NM_001171.6(ABCC6):c.3736-20A>G rs2046600338
NM_001171.6(ABCC6):c.3736-6C>T
NM_001171.6(ABCC6):c.3783G>A (p.Gln1261=)
NM_001171.6(ABCC6):c.3786C>T (p.Gly1262=)
NM_001171.6(ABCC6):c.3795C>A (p.Ile1265=)
NM_001171.6(ABCC6):c.3798G>A (p.Glu1266=) rs2152216113
NM_001171.6(ABCC6):c.3804G>A (p.Arg1268=)
NM_001171.6(ABCC6):c.3810T>C (p.Phe1270=)
NM_001171.6(ABCC6):c.3816A>C (p.Leu1272=)
NM_001171.6(ABCC6):c.3817A>C (p.Arg1273=)
NM_001171.6(ABCC6):c.3846G>T (p.Val1282=)
NM_001171.6(ABCC6):c.3882+8G>A
NM_001171.6(ABCC6):c.3882+9T>C rs2152215884
NM_001171.6(ABCC6):c.3883-10C>A rs965791272
NM_001171.6(ABCC6):c.3885G>C (p.Val1295=)
NM_001171.6(ABCC6):c.3900G>A (p.Arg1300=)
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) rs201812902
NM_001171.6(ABCC6):c.3927C>T (p.Ala1309=)
NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg)
NM_001171.6(ABCC6):c.3934C>T (p.Leu1312=)
NM_001171.6(ABCC6):c.3939G>A (p.Leu1313=) rs371122759
NM_001171.6(ABCC6):c.3939G>T (p.Leu1313=)
NM_001171.6(ABCC6):c.3945C>A (p.Leu1315=) rs2152212364
NM_001171.6(ABCC6):c.3996C>G (p.His1332Gln) rs60320257
NM_001171.6(ABCC6):c.3996C>T (p.His1332=) rs60320257
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) rs63750235
NM_001171.6(ABCC6):c.4002G>T (p.Gly1334=)
NM_001171.6(ABCC6):c.4005G>A (p.Leu1335=)
NM_001171.6(ABCC6):c.4011A>G (p.Thr1337=)
NM_001171.6(ABCC6):c.4020C>T (p.Ser1340=) rs2152212224
NM_001171.6(ABCC6):c.4041+16G>C
NM_001171.6(ABCC6):c.4041+16G>T
NM_001171.6(ABCC6):c.4041+17G>A
NM_001171.6(ABCC6):c.4041+18G>A rs2152212168
NM_001171.6(ABCC6):c.4041+19G>A
NM_001171.6(ABCC6):c.4042-14C>A
NM_001171.6(ABCC6):c.4042-16C>T
NM_001171.6(ABCC6):c.4042-17C>A
NM_001171.6(ABCC6):c.4042-20C>A
NM_001171.6(ABCC6):c.4042-7C>T
NM_001171.6(ABCC6):c.4042-8C>G rs1248913205
NM_001171.6(ABCC6):c.4047C>T (p.Pro1349=) rs2046488119
NM_001171.6(ABCC6):c.4050C>T (p.Ile1350=)
NM_001171.6(ABCC6):c.4056C>T (p.Phe1352=)
NM_001171.6(ABCC6):c.4069C>A (p.Arg1357=)
NM_001171.6(ABCC6):c.4080C>T (p.Leu1360=)
NM_001171.6(ABCC6):c.4095G>A (p.Glu1365=)
NM_001171.6(ABCC6):c.4113C>T (p.Ile1371=)
NM_001171.6(ABCC6):c.4123C>T (p.Leu1375=)
NM_001171.6(ABCC6):c.4131G>A (p.Thr1377=)
NM_001171.6(ABCC6):c.4131G>C (p.Thr1377=)
NM_001171.6(ABCC6):c.4149G>A (p.Leu1383=)
NM_001171.6(ABCC6):c.4164C>G (p.Pro1388=) rs373736094
NM_001171.6(ABCC6):c.4179C>T (p.Tyr1393=)
NM_001171.6(ABCC6):c.4191C>T (p.Asp1397=)
NM_001171.6(ABCC6):c.4208+11C>T
NM_001171.6(ABCC6):c.4208+8C>G
NM_001171.6(ABCC6):c.4209-20A>T rs1419756995
NM_001171.6(ABCC6):c.4209-6T>C
NM_001171.6(ABCC6):c.4227C>T (p.Leu1409=) rs1012389416
NM_001171.6(ABCC6):c.4234C>T (p.Leu1412=)
NM_001171.6(ABCC6):c.4236G>A (p.Leu1412=)
NM_001171.6(ABCC6):c.4245C>T (p.Ala1415=)
NM_001171.6(ABCC6):c.4248T>C (p.Leu1416=)
NM_001171.6(ABCC6):c.4251C>G (p.Leu1417=)
NM_001171.6(ABCC6):c.4269C>T (p.Leu1423=)
NM_001171.6(ABCC6):c.4293C>T (p.Ala1431=)
NM_001171.6(ABCC6):c.4302T>C (p.Pro1434=)
NM_001171.6(ABCC6):c.4308G>A (p.Thr1436=)
NM_001171.6(ABCC6):c.4404-17C>G
NM_001171.6(ABCC6):c.4404-17C>T rs751418161
NM_001171.6(ABCC6):c.4404-20T>C rs754748834
NM_001171.6(ABCC6):c.4404-20T>G rs754748834
NM_001171.6(ABCC6):c.4404-23_4404-20del
NM_001171.6(ABCC6):c.4404-5C>T
NM_001171.6(ABCC6):c.4434A>G (p.Ala1478=)
NM_001171.6(ABCC6):c.4440C>T (p.Ser1480=)
NM_001171.6(ABCC6):c.4482C>T (p.Tyr1494=)
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) rs2606921
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.6(ABCC6):c.829G>A (p.Gly277Ser)
NM_001171.6(ABCC6):c.855C>T (p.Thr285=) rs4780605

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