ClinVar Miner

List of variants studied for adrenal gland disorder by Baylor Genetics

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 468
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445 0.00530
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_001105247.2(ARMC5):c.1864+198T>A rs150981686 0.00129
NM_182977.3(NNT):c.1817T>C (p.Val606Ala) rs139379760 0.00044
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_182977.3(NNT):c.1424C>T (p.Thr475Met) rs141791856 0.00042
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys) rs145616631 0.00016
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_001370259.2(MEN1):c.-23-135G>A rs587777949 0.00012
NM_002382.5(MAX):c.341A>C (p.Asn114Thr) rs772912674 0.00012
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00012
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly) rs763476625 0.00010
NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln) rs182877860 0.00009
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538 0.00008
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly) rs1249001227 0.00008
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala) rs34599281 0.00007
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln) rs375401465 0.00007
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_017841.4(SDHAF2):c.490A>G (p.Lys164Glu) rs150187184 0.00006
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) rs375833424 0.00005
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp) rs182489063 0.00005
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_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_003000.3(SDHB):c.695C>T (p.Ala232Val) rs746224555 0.00004
NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr) rs371810618 0.00004
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val) rs111402137 0.00004
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His) rs535627239 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr) rs577020327 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 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_000497.4(CYP11B1):c.421C>T (p.Arg141Ter) rs775479837 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser) rs587780844 0.00003
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser) rs773089218 0.00003
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu) rs773580529 0.00003
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000102.4(CYP17A1):c.297+2T>C rs764723654 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_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His) rs373663596 0.00002
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val) rs759337318 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_001370259.2(MEN1):c.989G>A (p.Arg330His) rs373135175 0.00002
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn) rs1060503389 0.00002
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn) rs1485358364 0.00002
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr) rs752938517 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786 0.00002
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) rs104894139 0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys) rs104894142 0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His) rs752811843 0.00001
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu) rs760695410 0.00001
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg) rs104894143 0.00001
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His) rs777638364 0.00001
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln) rs104894153 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg) rs751136795 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.235T>A (p.Phe79Ile) rs1489638195 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.896T>C (p.Leu299Pro) rs387907573 0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) rs387907572 0.00001
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu) rs1286563734 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.1048C>G (p.Leu350Val) rs768046010 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.38C>T (p.Pro13Leu) rs878854070 0.00001
NM_000546.6(TP53):c.393C>A (p.Asn131Lys) rs769270327 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.848G>A (p.Arg283His) rs371409680 0.00001
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His) rs748152068 0.00001
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp) rs772551729 0.00001
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His) rs752232472 0.00001
NM_001128840.3(CACNA1D):c.4924-6A>G rs1475661078 0.00001
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg) rs1176833638 0.00001
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val) rs377715802 0.00001
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr) rs1225964479 0.00001
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys) rs773978650 0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) rs1085307502 0.00001
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro) rs1411766225 0.00001
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu) rs150308912 0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu) rs1389398299 0.00001
NM_001370259.2(MEN1):c.344G>A (p.Arg115His) rs1114167507 0.00001
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg) rs1555165742 0.00001
NM_001370259.2(MEN1):c.655-5C>G rs752563214 0.00001
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val) rs760289964 0.00001
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser) rs368619946 0.00001
NM_001756.4(SERPINA6):c.539G>A (p.Gly180Glu) rs769978145 0.00001
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 0.00001
NM_002382.5(MAX):c.410G>A (p.Gly137Asp) rs771696396 0.00001
NM_002382.5(MAX):c.425C>T (p.Ser142Leu) rs760147253 0.00001
NM_002382.5(MAX):c.466C>T (p.Arg156Trp) rs768360710 0.00001
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys) rs778449586 0.00001
NM_017841.4(SDHAF2):c.260+3A>G rs1445986287 0.00001
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser) rs747022200 0.00001
NM_017841.4(SDHAF2):c.371-2A>G rs375280597 0.00001
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys) rs367574730 0.00001
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly) rs1056273933 0.00001
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser) rs952830677 0.00001
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly) rs1451389209 0.00001
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser) rs1024081498 0.00001
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser) rs995979769 0.00001
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val) rs751779219 0.00001
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg) rs764136807 0.00001
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu) rs769359648 0.00001
NM_017849.4(TMEM127):c.383G>A (p.Arg128His) rs779277417 0.00001
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) rs780133289 0.00001
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp) rs1364190464 0.00001
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn) rs1348645128 0.00001
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile) rs1485424649 0.00001
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met) rs749807415 0.00001
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu) rs41271081 0.00001
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg) rs1451092520 0.00001
GRCh37/hg19 Xq28(chrX:152980470-153032459)
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.1382del (p.Leu461fs)
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile) rs2091762306
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn) rs886044887
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr) rs2091775448
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del) rs1603231784
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs) rs2148388986
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly) rs1569540695
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe) rs879952582
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) rs104894149
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.1157_1161del (p.Val386fs)
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu) rs367833709
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.1318C>T (p.Arg440Cys)
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.1381C>T (p.Gln461Ter)
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
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.245C>A (p.Ala82Asp)
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) rs1844148108
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter) rs942376359
NM_000102.4(CYP17A1):c.437-1G>A
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter) rs1173000590
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.667-16_680del
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
NM_000102.4(CYP17A1):c.753+1G>A rs1844126291
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.973AAG[2] (p.Lys327del)
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
NM_000176.3(NR3C1):c.2114A>G (p.Glu705Gly)
NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu) rs28934593
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys) rs1651920667
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.1150_1153del (p.Arg384fs)
NM_000497.4(CYP11B1):c.1200+1G>T
NM_000497.4(CYP11B1):c.1201-1G>A rs1437397442
NM_000497.4(CYP11B1):c.1201-9C>A
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys) rs1221010438
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro) rs28934586
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) rs2130266157
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
NM_000497.4(CYP11B1):c.1399-1G>C
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.317_344del (p.Leu106fs) rs764418169
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)
NM_000497.4(CYP11B1):c.395+1G>C rs1554653514
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) rs142484434
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter) rs866430018
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter) rs2130274854
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs) rs2130273520
NM_000497.4(CYP11B1):c.907del (p.Ala303fs) rs769310764
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) 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_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg) rs1555524361
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser) rs587781858
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr) rs2072835191
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.6(TP53):c.322G>C (p.Gly108Arg) rs587782461
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
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.406C>T (p.Gln136Ter)
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.440T>A (p.Val147Asp) rs1453167097
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.47A>G (p.Gln16Arg) rs2073520057
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.48G>C (p.Gln16His) rs1597376489
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
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.559+5G>C rs1555525956
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
NM_000546.6(TP53):c.575A>G (p.Gln192Arg) rs730882002
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) 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.671A>G (p.Glu224Gly) rs1131691028
NM_000546.6(TP53):c.672+1G>A rs863224499
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.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
NM_000546.6(TP53):c.783-10T>G
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
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.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
NM_000546.6(TP53):c.871A>G (p.Lys291Glu) rs1555525126
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
NM_000546.6(TP53):c.950A>T (p.Gln317Leu) rs1159579789
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
NM_000546.6(TP53):c.97-11C>G rs769697802
NM_000546.6(TP53):c.974G>A (p.Gly325Glu) rs121912659
NM_000546.6(TP53):c.978A>T (p.Glu326Asp) rs1000256867
NM_000546.6(TP53):c.97_99del (p.Ser33del)
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala)
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln) rs2094189629
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp) rs371364206
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1050-3C>G
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr) rs794728627
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val) rs878855186
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) rs1114167542
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro) rs200035619
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys) rs748102589
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln) rs753185026
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg) rs753022747
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr) rs1941501393
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro) rs1555163185
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe) rs1328296968
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg) rs1942005110
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn) rs1283021293
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val) rs1941990096
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys) rs1056705868
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln) rs1423517569
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_001370259.2(MEN1):c.682A>G (p.Met228Val) rs1060499982
NM_001370259.2(MEN1):c.691G>C (p.Asp231His) rs1941827572
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
NM_001370259.2(MEN1):c.754G>C (p.Asp252His) rs770368608
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro) rs1592647333
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser) rs1941726727
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu) rs1555165089
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
NM_002382.5(MAX):c.406G>C (p.Gly136Arg) rs140490467
NM_002382.5(MAX):c.413C>T (p.Ser138Leu) rs1176118785
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly) rs200131173
NM_003000.3(SDHB):c.73-29del rs745905902
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) rs748683825
NM_016953.4(PDE11A):c.493C>A (p.Pro165Thr) rs779068288
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu) rs371977724
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly) rs1862011610
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.4(SDHAF2):c.235A>G (p.Met79Val) rs781702725
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala) rs1554983610
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
NM_017841.4(SDHAF2):c.371-4G>C
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser) rs1456398772
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg) rs786202314
NM_017849.4(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del) rs1684396239
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe) rs1684152230
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu) rs2104308338
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala) rs761885719
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr) rs373781978
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly) rs1684140913
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys) rs773893318

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