ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disorder

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1163
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252 0.00995
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001128590.1(CYP21A2):c.-113G>A rs1246774295 0.00251
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987 0.00158
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn) rs121908819 0.00073
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) rs758658540 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) rs104894072 0.00011
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter) rs771254375 0.00011
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) rs60040113 0.00011
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_004366.6(CLCN2):c.898+1G>A rs141074059 0.00009
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538 0.00008
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp) rs121908824 0.00006
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00005
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) rs375833424 0.00005
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000498.3(CYP11B2):c.1398+1G>A rs539836429 0.00004
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile) rs373579128 0.00004
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser) rs72552758 0.00004
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln) rs104894154 0.00003
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) rs762245736 0.00003
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) rs375892072 0.00003
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met) rs765921219 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.650G>A (p.Arg217His) rs747518441 0.00003
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg) rs771111180 0.00003
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter) rs770582052 0.00003
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter) rs754637718 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu) rs1204814114 0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000349.3(STAR):c.745-1G>C rs374297649 0.00002
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706 0.00002
NM_001395413.1(POR):c.1354del (p.Gln452fs) rs781805159 0.00002
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr) rs28931607 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile) rs1159943880 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) rs104894139 0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His) rs752811843 0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) rs61754262 0.00001
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis) rs397509434 0.00001
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780 0.00001
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094 0.00001
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) rs1288735234 0.00001
NM_000383.4(AIRE):c.308-1G>C rs764588340 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) rs1029475010 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418 0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023 0.00001
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His) rs367634557 0.00001
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His) rs5282 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile) rs193922539 0.00001
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His) rs193922540 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749 0.00001
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu) rs370266763 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573 0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) rs387907572 0.00001
NM_000497.4(CYP11B1):c.955-1G>A rs1456715954 0.00001
NM_000498.3(CYP11B2):c.1200+1G>A rs761385416 0.00001
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter) rs1817612031 0.00001
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys) rs772900496 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000529.2(MC2R):c.437G>A (p.Arg146His) rs758709668 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508 0.00001
NM_001105247.2(ARMC5):c.1787T>G (p.Leu596Arg) rs2082338123 0.00001
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_001395413.1(POR):c.179+2T>C rs936203749 0.00001
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys) rs72557954 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp) rs778952116 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.540G>A (p.Leu180=) rs528442805 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys) rs138996609 0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys) rs1131691058 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003002.4(SDHD):c.53-1G>T rs1291507545 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.1909-2A>G rs747939816 0.00001
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) rs553257776 0.00001
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg) rs940845256 0.00001
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile) rs587781720 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly) rs775623976 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_017841.4(SDHAF2):c.260+3A>G rs1445986287 0.00001
NM_017841.4(SDHAF2):c.37-1G>C rs761956866 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser) rs121908818 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NC_000001.10:g.(?_161310384)_(161310445_?)dup
NC_000001.10:g.(?_161326457)_(161326640_?)dup
NC_000001.10:g.(?_17349093)_(17350579_?)del
NC_000001.10:g.(?_17349097)_(17359646_?)dup
NC_000001.10:g.(?_17354234)_(17359650_?)dup
NC_000001.10:g.(?_17359545)_(17359650_?)dup
NC_000001.10:g.(?_17371256)_(17371383_?)dup
NC_000001.11:g.(?_161340584)_(161340665_?)dup
NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del
NC_000011.9:g.(?_61205087)_(61213543_?)del
NC_000023.10:g.(?_153002694)_153020558del
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) rs1603233120
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg) rs2091726796
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp) rs2091726809
NM_000033.4(ABCD1):c.102del (p.Leu35fs) rs2148388645
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
NM_000033.4(ABCD1):c.1081+1G>C
NM_000033.4(ABCD1):c.1082-1G>A rs1557054153
NM_000033.4(ABCD1):c.10dup (p.Leu4fs) rs2091702447
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro) rs1557054173
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs) rs2091749146
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
NM_000033.4(ABCD1):c.125del (p.Pro42fs) rs2148388674
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1394-2_1404del
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr) rs2148396070
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn) rs2091753125
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro) rs2091762267
NM_000033.4(ABCD1):c.1508del (p.Leu503fs)
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser) rs2148397545
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu) rs1569541087
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp) rs2148397558
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg) rs1569541088
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val) rs2148397565
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg) rs2091763089
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr) rs2091764526
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg) rs398123105
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr) rs2148397936
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del) rs2091764754
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
NM_000033.4(ABCD1):c.1781-2A>G
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser) rs2091772331
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala) rs78993751
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr) rs2148399060
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val) rs2148399208
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) rs1603236012
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr) rs2091775068
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro) rs2091775375
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu) rs868953385
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
NM_000033.4(ABCD1):c.290A>G (p.His97Arg) rs2091705296
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys) rs2148388971
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp) rs1557052362
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser) rs1569540693
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly) rs1569540695
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu) rs1057517954
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro) rs2091708025
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg) rs2091708534
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs) rs2091708827
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro) rs2091709142
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn) rs2091709198
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del) rs2091710358
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser) rs2091710960
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp) rs128624218
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) rs1603232195
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp) rs1603232195
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val) rs2091711473
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr) rs782509393
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu) rs2091711722
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly) rs782334088
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp) rs2148389975
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) rs2091712008
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.900+2T>C rs2091712381
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000033.4(ABCD1):c.901-9_903del rs2148391889
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met) rs2091726242
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly) rs2091726251
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del) rs2148391915
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter) rs941503814
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) rs104894149
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn) rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp) rs1423560123
NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr) rs1423560123
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu) rs367833709
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000102.4(CYP17A1):c.1244-1G>C
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys) rs371825363
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys) rs1250463562
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) rs1844148108
NM_000102.4(CYP17A1):c.437-1G>A
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu) rs752540777
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)
NM_000102.4(CYP17A1):c.666+2T>C
NM_000102.4(CYP17A1):c.667-13_667-10del rs1844127277
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
NM_000176.3(NR3C1):c.1185-2A>G
NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val) rs1453036708
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) rs905880501
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro)
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter) rs756663759
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.179-2A>G rs1554502986
NM_000349.3(STAR):c.203del (p.Tyr68fs)
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)
NM_000349.3(STAR):c.229del (p.Gln77fs)
NM_000349.3(STAR):c.271_272del (p.Ser91fs)
NM_000349.3(STAR):c.298_299del (p.Gln101fs) rs765904696
NM_000349.3(STAR):c.306+1G>A
NM_000349.3(STAR):c.307-1G>A rs2130614519
NM_000349.3(STAR):c.391_392insT (p.Glu131fs)
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)
NM_000349.3(STAR):c.436G>T (p.Glu146Ter)
NM_000349.3(STAR):c.475A>T (p.Lys159Ter)
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)
NM_000349.3(STAR):c.503dup (p.His168fs)
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.611_612del (p.Thr204fs)
NM_000349.3(STAR):c.629_630del (p.Pro210fs) rs771895449
NM_000349.3(STAR):c.64+2T>C rs1298369560
NM_000349.3(STAR):c.650+1G>A rs1563267767
NM_000349.3(STAR):c.651-1G>C rs749626865
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
NM_000349.3(STAR):c.677del (p.Val226fs) rs1554502732
NM_000349.3(STAR):c.695del (p.Gly232fs) rs757367795
NM_000349.3(STAR):c.714del (p.Lys238fs) rs1417088430
NM_000349.3(STAR):c.716_732del (p.Leu239fs) rs1554502725
NM_000349.3(STAR):c.745-1_757del rs1554502668
NM_000349.3(STAR):c.801dup (p.Ala268fs) rs1554502663
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000349.3(STAR):c.82_83insA (p.Val28fs)
NM_000349.3(STAR):c.97del (p.Gln33fs)
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) rs2040561421
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.1398dup (p.Gly467fs)
NM_000383.4(AIRE):c.1400+1G>A rs1469386000
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1406del (p.Gly469fs) rs2146385757
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1566+2dup rs1057516811
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp) rs1942959342
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro) rs2040485564
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) rs2040495130
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs) rs1555872060
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.539-2A>G rs2146377702
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
NM_000383.4(AIRE):c.61del (p.Ala21fs)
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.685del (p.Glu229fs)
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) rs2040534254
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.996-1G>A
NM_000475.5(NR0B1):c.1006dup (p.Val336fs) rs1926565039
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln) rs1926485824
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs) rs2147007005
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
NM_000475.5(NR0B1):c.617del (p.His206fs)
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.4(CYP11B1):c.1122-2A>G
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) rs1816901292
NM_000497.4(CYP11B1):c.1150C>T (p.Arg384Ter)
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs) rs1379392398
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) rs758714890
NM_000497.4(CYP11B1):c.1200+1G>T
NM_000497.4(CYP11B1):c.1200+1del rs2130267209
NM_000497.4(CYP11B1):c.1201-1G>A rs1437397442
NM_000497.4(CYP11B1):c.1201-9C>A
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs) rs1554652650
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del) rs2130266841
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) rs2130266157
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
NM_000497.4(CYP11B1):c.1398+2T>C rs577022490
NM_000497.4(CYP11B1):c.1398+4A>G rs1586557065
NM_000497.4(CYP11B1):c.1399-1G>C
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser)
NM_000497.4(CYP11B1):c.147del (p.Trp49fs) rs748867146
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter) rs1554653551
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)
NM_000497.4(CYP11B1):c.395+1G>C rs1554653514
NM_000497.4(CYP11B1):c.396-2A>G
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)
NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu)
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) rs1479660166
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) rs142484434
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.4(CYP11B1):c.595+1G>C
NM_000497.4(CYP11B1):c.596-2A>G
NM_000497.4(CYP11B1):c.642_643del (p.His214fs) rs1369163428
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) rs1327055239
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter)
NM_000497.4(CYP11B1):c.799+1G>C rs1554652990
NM_000497.4(CYP11B1):c.799+2T>C rs193922541
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp)
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) rs5290
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) rs1816949224
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs) rs2130273520
NM_000497.4(CYP11B1):c.907del (p.Ala303fs) rs769310764
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.4(CYP11B1):c.954+1del
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) rs63748989
NM_000498.3(CYP11B2):c.517AAG[2] (p.Lys175del) rs746842822
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro) rs1351295710
NM_000498.3(CYP11B2):c.945C>G (p.Ser315Arg)
NM_000500.7:c.*28699080dupT
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr) rs2151875295
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
NM_000500.9(CYP21A2):c.1118+1G>A rs778895502
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn) rs1429901248
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val) rs2151876633
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs) rs779791105
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs) rs886038207
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs) rs1582298980
NM_000500.9(CYP21A2):c.254del (p.Lys85fs) rs1582300748
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) rs1554304513
NM_000500.9(CYP21A2):c.292+1G>A rs779144910
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
NM_000500.9(CYP21A2):c.405del (p.Met136fs) rs2151871966
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val) rs1582305275
NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter) rs1776123817
NM_000500.9(CYP21A2):c.652-1G>A rs1397184823
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser) rs182942340
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr) rs1582307951
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg) rs1582307951
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)
NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del) rs1582309414
NM_000500.9:c.(?_-50)_(939+1_940-1)del
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg) rs761911005
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.4(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.4(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.588dup (p.Asp197fs) rs864321640
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter) rs2060639501
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) rs886041121
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001105247.2(ARMC5):c.1724_1753delinsAT (p.Cys575fs) rs2142575218
NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs) rs1596605496
NM_001105247.2(ARMC5):c.2432G>C (p.Arg811Pro) rs181967284
NM_001105247.2(ARMC5):c.968G>A (p.Gly323Asp) rs35461188
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs) rs1555919960
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter) rs780712297
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs) rs1555913337
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro) rs2071312
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs) rs386134245
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro) rs776561706
NM_001370259.2(MEN1):c.1049+2T>C rs1555164946
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
NM_001370259.2(MEN1):c.1063del (p.Arg355fs) rs386134246
NM_001370259.2(MEN1):c.1102del (p.Ala368fs) rs2136110242
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser) rs794728627
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs) rs386134247
NM_001370259.2(MEN1):c.1185+1G>A rs1941661315
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) rs1114167542
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val) rs1941615895
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg) rs1555164270
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs) rs1555164184
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr) rs1060499981
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser) rs1941604532
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro) rs775922507
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu) rs878855189
NM_001370259.2(MEN1):c.137A>C (p.His46Pro) rs2136192730
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly) rs1555166664
NM_001370259.2(MEN1):c.1564dup (p.Val522fs) rs1941522995
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) rs1114167510
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
NM_001370259.2(MEN1):c.1739del (p.Thr580fs) rs864622617
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.274del (p.Arg92fs) rs2136186754
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
NM_001370259.2(MEN1):c.416A>G (p.His139Arg) rs1114167515
NM_001370259.2(MEN1):c.417C>A (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.445+1G>A
NM_001370259.2(MEN1):c.445+1G>T
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala) rs1565648789
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs) rs386134255
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val) rs1565648547
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr) rs1057521111
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro) rs386134256
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370259.2(MEN1):c.643G>A (p.Val215Met) rs794728621
NM_001370259.2(MEN1):c.649_654+2del rs386134258
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
NM_001370259.2(MEN1):c.654+3A>G rs1064793168
NM_001370259.2(MEN1):c.655-15_658del rs1592649598
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val) rs2136141530
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter) rs386134259
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs) rs1555165488
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln) rs104894268
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe) rs878855198
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
NM_001370259.2(MEN1):c.783+2del
NM_001370259.2(MEN1):c.784-1G>A rs1555165377
NM_001370259.2(MEN1):c.784-1G>C rs1555165377
NM_001370259.2(MEN1):c.784-2A>T
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro) rs1592647281
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
NM_001370259.2(MEN1):c.825-1_825del rs2136130282
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn) rs1592646211
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs) rs386134261
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) rs1114167469
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del) rs1941723156
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
NM_001395413.1(POR):c.1239+1G>C rs782168868
NM_001395413.1(POR):c.1239+1G>T
NM_001395413.1(POR):c.1239+2T>G
NM_001395413.1(POR):c.1240-2A>G
NM_001395413.1(POR):c.1320dup (p.Ile441fs) rs786205875
NM_001395413.1(POR):c.1389+1G>A
NM_001395413.1(POR):c.1389+1G>C
NM_001395413.1(POR):c.1647_1660+15del
NM_001395413.1(POR):c.1661-2A>G
NM_001395413.1(POR):c.1807-2A>C
NM_001395413.1(POR):c.1874A>C (p.His625Pro)
NM_001395413.1(POR):c.229-1G>A
NM_001395413.1(POR):c.229-2A>G
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
NM_001395413.1(POR):c.821+1G>A
NM_001395413.1(POR):c.821+2_821+3del
NM_001756.4(SERPINA6):c.164_165del (p.Val55fs) rs771441863
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn) rs121913413
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002382.5(MAX):c.289C>T (p.Gln97Ter) rs1167538050
NM_002382.5(MAX):c.300_309dup (p.Lys104fs)
NM_002382.5(MAX):c.55C>T (p.Gln19Ter) rs2139963878
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn) rs1570958090
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.3(SDHB):c.200+5G>T rs1553178726
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr) rs587782904
NM_003000.3(SDHB):c.206G>T (p.Gly69Val) rs2101529108
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe) rs2101528919
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu) rs570278423
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286+2T>A rs587781270
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys) rs587782243
NM_003000.3(SDHB):c.287-10_295del
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.287-3C>G rs1553177772
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr) rs1553177768
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003000.3(SDHB):c.348_352del (p.Ile117fs) rs1480267715
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr) rs786203529
NM_003000.3(SDHB):c.424-79_424-2del
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.3(SDHB):c.479_482del (p.Lys160fs) rs2101521720
NM_003000.3(SDHB):c.540+1G>A rs1553177667
NM_003000.3(SDHB):c.540_540+13del rs1553177666
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp) rs2101516550
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr) rs2077978456
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg) rs2101516484
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.3(SDHB):c.598dup (p.Trp200fs) rs2101516417
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg) rs781590955
NM_003000.3(SDHB):c.642_642+6del rs876660368
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu) rs747518441
NM_003000.3(SDHB):c.72+2T>G
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp) rs2101513669
NM_003000.3(SDHB):c.73-1G>A rs1131691055
NM_003000.3(SDHB):c.73-1G>T rs1131691055
NM_003000.3(SDHB):c.73-2A>C
NM_003000.3(SDHB):c.73-2A>T rs1474282888
NM_003000.3(SDHB):c.756_765+4del rs1553177267
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
NM_003000.3(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.171_179+15del rs1671156558
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.179+1G>T rs1057517818
NM_003001.5(SDHC):c.179+2T>A
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.20+1G>A
NM_003001.5(SDHC):c.20+1G>T rs1249046874
NM_003001.5(SDHC):c.21-3_22del rs1553261757
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.2T>G (p.Met1Arg) rs1670517782
NM_003001.5(SDHC):c.379C>A (p.His127Asn) rs1485675090
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.405+1G>A rs587776653
NM_003001.5(SDHC):c.405+1del rs1558182956
NM_003001.5(SDHC):c.406-1G>A
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003001.5(SDHC):c.77+1G>C
NM_003001.5(SDHC):c.78-1G>T rs786202200
NM_003001.5(SDHC):c.78-2A>G
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_003002.4(SDHD):c.117del (p.Ile40fs)
NM_003002.4(SDHD):c.128G>A (p.Trp43Ter) rs2135267337
NM_003002.4(SDHD):c.147dup (p.His50fs) rs876659130
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.18_21del (p.Leu7fs) rs1555186662
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
NM_003002.4(SDHD):c.217dup (p.Ser73fs) rs2135269358
NM_003002.4(SDHD):c.267_281del (p.Ala90_Ser94del) rs1865690107
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.298_301del (p.Thr100fs) rs786203067
NM_003002.4(SDHD):c.298del (p.Thr100fs) rs1555187067
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr) rs786202403
NM_003002.4(SDHD):c.305A>C (p.His102Pro) rs104894302
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.340T>C (p.Tyr114His) rs876659276
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) rs878854594
NM_003002.4(SDHD):c.386del (p.Leu129fs) rs864321644
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu) rs1401695686
NM_003002.4(SDHD):c.413G>T (p.Gly138Val) rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg) rs80338847
NM_003002.4(SDHD):c.424_427del (p.Phe142fs) rs2135277706
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_003002.4(SDHD):c.44_52+24del rs1865621296
NM_003002.4(SDHD):c.52+1_52+2delinsAA
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_003002.4(SDHD):c.53-1_53delinsTT rs1566691921
NM_003002.4(SDHD):c.53-2A>C
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro) rs1553999041
NM_004168.4(SDHA):c.1064+1G>T rs1579402807
NM_004168.4(SDHA):c.1064+2T>A rs1553999072
NM_004168.4(SDHA):c.1064+2T>C
NM_004168.4(SDHA):c.1064+2T>G rs1553999072
NM_004168.4(SDHA):c.1065-2A>G
NM_004168.4(SDHA):c.1260+1G>A rs1735710012
NM_004168.4(SDHA):c.1260+2T>A rs1735710103
NM_004168.4(SDHA):c.1261-1G>A rs1735779936
NM_004168.4(SDHA):c.1261-2A>G rs1579409293
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg) rs1579409500
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu) rs1296066077
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1G>A
NM_004168.4(SDHA):c.1432+1G>C rs878854628
NM_004168.4(SDHA):c.1432+1G>T rs878854628
NM_004168.4(SDHA):c.1432+2T>G
NM_004168.4(SDHA):c.1433-2A>G
NM_004168.4(SDHA):c.150+1G>C rs1057523165
NM_004168.4(SDHA):c.150_150+1delinsTA rs2126539987
NM_004168.4(SDHA):c.151-1G>C rs1458851277
NM_004168.4(SDHA):c.151-2A>G
NM_004168.4(SDHA):c.1551+1G>A rs759806010
NM_004168.4(SDHA):c.1552-1G>C
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1664-16_1666del
NM_004168.4(SDHA):c.1664-1G>A
NM_004168.4(SDHA):c.1664-2A>G rs2126633124
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly) rs387906780
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln) rs763766162
NM_004168.4(SDHA):c.1769del (p.Gly590fs) rs1554001958
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs) rs1561010948
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.1909-1G>A rs1159597886
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.210dup (p.Gly71fs) rs1553997340
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg) rs1553997377
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.312+1G>A rs2126543441
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.456+1G>T rs1579384604
NM_004168.4(SDHA):c.457-1G>A
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.621+1G>A rs1735002961
NM_004168.4(SDHA):c.622-1G>A rs1285132774
NM_004168.4(SDHA):c.63+1G>C
NM_004168.4(SDHA):c.63+2del rs1579369969
NM_004168.4(SDHA):c.64-2A>C
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.769_770+77del
NM_004168.4(SDHA):c.771-1G>C rs1735353141
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg) rs940845256
NM_004168.4(SDHA):c.895+1del rs2126568833
NM_004168.4(SDHA):c.895+2T>C
NM_004168.4(SDHA):c.896-2A>G
NM_004168.4(SDHA):c.896-2del
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004168.4:c.(1260_1261)_(1432_1433)del
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) rs756385625
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly) rs398124146
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) rs1057519884
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu) rs1057519884
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His) rs1057519939
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr) rs1057519938
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile) rs1057519938
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) rs121913284
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly) rs121913272
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val) rs1057519936
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr) rs1057519937
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys) rs775623976
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His) rs1057519961
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter) rs2125629897
NM_015665.5(AAAS):c.936_937delAG rs1592513048
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr) rs765757844
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs) rs770214071
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
NM_015665.6(AAAS):c.762del (p.Ser255fs) rs746057093
NM_015665.6(AAAS):c.781_782del (p.Ala262fs) rs2121089586
NM_015665.6(AAAS):c.810+1G>A
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter) rs774817639
NM_016953.4(PDE11A):c.1149T>A (p.Tyr383Ter)
NM_016953.4(PDE11A):c.1270_1280del (p.Ser424fs) rs2105727398
NM_016953.4(PDE11A):c.1585C>T (p.Gln529Ter) rs2105581875
NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs) rs1574084195
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs) rs769235876
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr) rs1554728658
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs) rs1554728034
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.260+1G>A rs749527870
NM_017841.4(SDHAF2):c.260+2T>C rs2134892557
NM_017841.4(SDHAF2):c.261-1G>T
NM_017841.4(SDHAF2):c.261-2A>T rs745989557
NM_017841.4(SDHAF2):c.28del (p.Ser10fs) rs1861838658
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.36+1G>A
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) rs1862009020
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)
NM_017849.4(TMEM127):c.-18C>T rs121908813
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.4(TMEM127):c.149dup (p.Pro51fs) rs121908817
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.244+2T>C
NM_017849.4(TMEM127):c.245-1G>T rs121908821
NM_017849.4(TMEM127):c.245-2A>G rs2104288018
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
NM_017849.4(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.4(TMEM127):c.409+1G>T rs121908825
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs) rs1684149620
NM_017849.4(TMEM127):c.532dup (p.Tyr178fs) rs1553436874
NM_017849.4(TMEM127):c.560C>G (p.Ser187Ter)
NM_017849.4(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs) rs121908831
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter) rs121908815
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter) rs1555155110
NM_182977.3(NNT):c.1575dup (p.Pro526fs) rs1739624229
NM_182977.3(NNT):c.598G>A (p.Gly200Ser) rs886039788
NM_182977.3(NNT):c.98dup (p.Leu33fs) rs1579966821

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.