ClinVar Miner

List of variants reported as pathogenic for adrenal gland disease by OMIM

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 458
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HGVS dbSNP
-4C-T, PRO105LEU, AND PRO453SER
ABCD1, 1-BP DEL, 2204G
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
ARMC5, 1-BP DEL, G
CHEK2, 1-BP DEL, 1100C
CHEK2, 1-BP DEL, 1422T
CLCN2, ARG172GLN
CLCN2, LYS362DEL
CLCN2, MET22LYS
CLCN2, SER865ARG
CLCN2, TYR26ASN
CYP11A1, 1-BP DEL, 835A
CYP11A1, 1-BP INS, IVS3, T
CYP11A1, 6-BP INS
CYP11B1, 2-BP INS
CYP11B1, 954G-A
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA
CYP11B1, CYP11B1/CYP11B2 CHIMERA
CYP11B1, IVS3DS, G-T, +16
CYP11B1, IVS8, A-G, +4
CYP11B2, 5-BP DEL
CYP11B2, 6-BP DUP, CODON 143
CYP21A2, 1-BP INS, 1003A
CYP21A2, 1-BP INS, 82C
CYP21A2, 30-KB DEL
CYP21A2, ARG339HIS AND PRO453SER
CYP21A2, ARG408CYS
CYP21A2, ARG426HIS
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
CYP21A2, GLU380ASP
CYP21A2, GLY424SER
CYP21A2, IVS2, A-G, -2
CYP21A2, IVS7DS, G-C, +1
GMPPA, TRP214TER
HSD11B1, LYS187ASN
HSD3B2, 1-BP DEL, 867G
HSD3B2, 1-BP INS
MC2R, 1-BP INS, 1347A
MEN1, 1-BP DEL, 7773C
MEN1, 1-BP INS, 1657C
MEN1, 12-BP DEL, NT1466
MEN1, 3-BP DEL, 2641GAA
MEN1, 4-BP DEL, 4480CAGT
MEN1, 6-BP INS, NT879
MRAP, IVS3, G DEL, +1
MRAP, IVS3, G-A, +1
MRAP, IVS3, G-C, +1
MRAP, IVS3, G-T, +1
MRAP, IVS3, T INS, +3
NC_000001.11:g.17048754_17064432del15679
NC_000001.11:g.17050061_17070437del20377
NG_012340.1:g.21597_29501del
NM_000033.3(ABCD1):c.-18_8del (p.Met1_Gly66del) rs387906497
NM_000033.3(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.3(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.3(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.3(ABCD1):c.1415_1416delAG (p.Gln472Argfs) rs387906494
NM_000033.3(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.3(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.3(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.3(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.3(ABCD1):c.1552del (p.Arg518Glyfs) rs387906495
NM_000033.3(ABCD1):c.1634+1G>A
NM_000033.3(ABCD1):c.1635-2A>G
NM_000033.3(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.3(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.3(ABCD1):c.1865+1G>A
NM_000033.3(ABCD1):c.1866-10G>A rs398123108
NM_000033.3(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.3(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.3(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.3(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000076.2(CDKN1C):c.820G>A (p.Asp274Asn) rs387907225
NM_000076.2(CDKN1C):c.826T>G (p.Phe276Val) rs387907223
NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser) rs387907224
NM_000076.2(CDKN1C):c.832A>G (p.Lys278Glu) rs387907226
NM_000076.2(CDKN1C):c.836G>C (p.Arg279Pro) rs318240750
NM_000163.4(GHR):c.184G>A (p.Glu62Lys) rs121909361
NM_000163.4(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.4(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.4(GHR):c.726G>C (p.Glu242Asp) rs45588036
NM_000163.4(GHR):c.876_945del rs730880308
NM_000176.2(NR3C1):c.1891_1892+2del rs587776832
NM_000196.3(HSD11B2):c.1009C>T (p.Arg337Cys) rs121917781
NM_000196.3(HSD11B2):c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) rs397509434
NM_000196.3(HSD11B2):c.1012T>C (p.Tyr338His) rs387907117
NM_000196.3(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000196.3(HSD11B2):c.623G>A (p.Arg208His) rs28934592
NM_000196.3(HSD11B2):c.637C>T (p.Arg213Cys) rs28934591
NM_000196.3(HSD11B2):c.664+14C>T rs376023420
NM_000196.3(HSD11B2):c.667G>A (p.Asp223Asn) rs121917833
NM_000196.3(HSD11B2):c.77_78del (p.Ser26Terfs) rs794726684
NM_000196.3(HSD11B2):c.835C>T (p.Arg279Cys) rs28934594
NM_000196.3(HSD11B2):c.895_897del (p.Tyr299del) rs794726670
NM_000244.3(MEN1):c.1077C>A (p.Cys359Ter) rs104894265
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.1669A>T (p.Thr557Ser) rs121913035
NM_000244.3(MEN1):c.566T>A (p.Val189Glu) rs104894262
NM_000244.3(MEN1):c.608G>A (p.Trp203Ter) rs104894258
NM_000244.3(MEN1):c.778G>A (p.Glu260Lys) rs104894268
NM_000287.3(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.3(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.3(PEX6):c.619_882del (p.Val207_Gln294del) rs1554128347
NM_000318.2(PEX2):c.355C>T (p.Arg119Ter) rs61752123
NM_000349.2(STAR):c.178+2dup
NM_000349.2(STAR):c.201_202del (p.Tyr68Glnfs)
NM_000349.2(STAR):c.466-11T>A rs1053284504
NM_000349.2(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.2(STAR):c.545G>T (p.Arg182Leu) rs104894086
NM_000349.2(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.2(STAR):c.562C>T (p.Arg188Cys) rs104894090
NM_000349.2(STAR):c.577C>T (p.Arg193Ter) rs387907235
NM_000349.2(STAR):c.64+1G>T rs765968701
NM_000349.2(STAR):c.650G>C (p.Arg217Thr) rs137852689
NM_000349.2(STAR):c.653C>T (p.Ala218Val) rs137852690
NM_000349.2(STAR):c.749G>A (p.Trp250Ter) rs104894087
NM_000349.2(STAR):c.772C>T (p.Gln258Ter) rs104894085
NM_000383.2(AIRE):c.205_208dupCAGG (p.Asp70Alafs) rs886041124
NM_000383.3(AIRE):c.1103_1104insC (p.Leu370Alafs) rs387906293
NM_000383.3(AIRE):c.1513del (p.Ala505Profs) rs387906294
NM_000383.3(AIRE):c.1A>T (p.Met1Leu) rs121434258
NM_000383.3(AIRE):c.239T>G (p.Val80Gly) rs267606642
NM_000383.3(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.3(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.3(AIRE):c.682G>T (p.Gly228Trp) rs121434257
NM_000383.3(AIRE):c.769C>T (p.Arg257Ter) rs121434254
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675
NM_000475.4(NR0B1):c.109C>T (p.Gln37Ter) rs104894908
NM_000475.4(NR0B1):c.1107G>A (p.Trp369Ter) rs104894886
NM_000475.4(NR0B1):c.1138T>G (p.Tyr380Asp) rs104894900
NM_000475.4(NR0B1):c.1142T>A (p.Leu381His) rs104894899
NM_000475.4(NR0B1):c.1146G>T (p.Lys382Asn) rs104894896
NM_000475.4(NR0B1):c.116G>A (p.Trp39Ter)
NM_000475.4(NR0B1):c.1183C>T (p.Gln395Ter) rs104894894
NM_000475.4(NR0B1):c.1197C>A (p.Tyr399Ter) rs104894906
NM_000475.4(NR0B1):c.1231_1234delCTCA (p.Leu411Valfs)
NM_000475.4(NR0B1):c.1316T>G (p.Ile439Ser) rs104894897
NM_000475.4(NR0B1):c.1319A>T (p.Asn440Ile) rs28935481
NM_000475.4(NR0B1):c.273C>A (p.Tyr91Ter) rs104894892
NM_000475.4(NR0B1):c.501delA (p.Gly169Alafs)
NM_000475.4(NR0B1):c.513G>A (p.Trp171Ter) rs104894891
NM_000475.4(NR0B1):c.591C>A (p.Tyr197Ter) rs104894898
NM_000475.4(NR0B1):c.704G>A (p.Trp235Ter) rs104894889
NM_000475.4(NR0B1):c.788T>A (p.Leu263Ter) rs104894887
NM_000475.4(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.4(NR0B1):c.813C>G (p.Tyr271Ter) rs104894895
NM_000475.4(NR0B1):c.847C>T (p.Gln283Ter) rs104894890
NM_000475.4(NR0B1):c.873G>C (p.Trp291Cys) rs28935482
NM_000475.4(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) rs104894071
NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter) rs104894066
NM_000497.3(CYP11B1):c.397A>C (p.Asn133His) rs104894067
NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met) rs104894068
NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) rs72554627
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala) rs72554626
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) rs121912977
NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter) rs121912979
NM_000498.3(CYP11B2):c.[541C>T;1157T>C]
NM_000498.3(CYP11B2):c.[594A>C;1157T>C]
NM_000500.7(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.7(CYP21A2):c.1217G>A (p.Trp406Ter) rs151344503
NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.7(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.361A>C (p.Lys121Gln) rs267606757
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.7(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]
NM_000500.9(CYP21A2):c.1451_1452delGGinsC (p.Arg484Profs) rs397509367
NM_000516.5(GNAS):c.601C>A (p.Arg201Ser) rs11554273
NM_000516.5(GNAS):c.601C>G (p.Arg201Gly) rs11554273
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile) rs104894658
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn) rs104894661
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg) rs104894656
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser) rs267607231
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys) rs104894657
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp) rs104894660
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter) rs104894659
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe) rs104894662
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys) rs28940892
NM_000546.5(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.5(TP53):c.216_217insC rs730882018
NM_000546.5(TP53):c.358A>T (p.Lys120Ter) rs121912658
NM_000546.5(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.455dupC (p.Pro153Alafs) rs730882019
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.532del (p.His178Thrfs) rs786202525
NM_000546.5(TP53):c.627_628del (p.Asn210Hisfs) rs587776768
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.875A>T (p.Lys292Ile) rs121912663
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.223_225delATC (p.Ile75del) rs794729660
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.263G>C (p.Trp88Ser) rs119103277
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.3(VHL):c.496G>T (p.Val166Phe) rs104893825
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000781.2(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508
NM_000781.2(CYP11A1):c.1076C>T (p.Ala359Val) rs121912812
NM_000781.2(CYP11A1):c.1244T>A (p.Val415Glu) rs121912814
NM_000781.2(CYP11A1):c.422T>G (p.Leu141Trp) rs121912813
NM_000781.2(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000781.2(CYP11A1):c.665T>C (p.Leu222Pro) rs387906601
NM_000890.3(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000890.4(KCNJ5):c.452G>A (p.Gly151Glu) rs587777437
NM_000890.4(KCNJ5):c.470T>G (p.Ile157Ser) rs587777438
NM_000890.4(KCNJ5):c.472A>G (p.Thr158Ala) rs387906778
NM_000890.4(KCNJ5):c.736G>A (p.Glu246Lys) rs587777439
NM_000941.2(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.2(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.2(POR):c.1706G>A (p.Cys569Tyr) rs28931607
NM_000941.2(POR):c.1822G>T (p.Val608Phe) rs72552772
NM_000941.2(POR):c.541T>G (p.Tyr181Asp) rs72552771
NM_000941.2(POR):c.859G>C (p.Ala287Pro) rs121912974
NM_001018077.1(NR3C1):c.1430G>A (p.Arg477His) rs104893913
NM_001018077.1(NR3C1):c.1676T>A (p.Ile559Asn) rs104893909
NM_001018077.1(NR3C1):c.1922A>T (p.Asp641Val) rs104893908
NM_001018077.1(NR3C1):c.2035G>A (p.Gly679Ser) rs104893914
NM_001018077.1(NR3C1):c.2209T>C (p.Phe737Leu) rs121909727
NM_001018077.1(NR3C1):c.2241T>G (p.Ile747Met) rs104893910
NM_001018077.1(NR3C1):c.2318T>C (p.Leu773Pro) rs104893912
NM_001079867.1(PEX2):c.163G>A (p.Glu55Lys) rs61752119
NM_001079867.1(PEX2):c.669G>A (p.Trp223Ter) rs61752127
NM_001079867.1(PEX2):c.865dup (p.Ser289Lysfs) rs724160029
NM_001128840.2(CACNA1D):c.2250C>G (p.Ile750Met) rs41276445
NM_001131025.1(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001166120.1(HSD3B2):c.1022C>T (p.Pro341Leu) rs121964897
NM_001166120.1(HSD3B2):c.1119A>C (p.Ter373Cys) rs80358218
NM_001166120.1(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880
NM_001166120.1(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219
NM_001166120.1(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_001166120.1(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_001166120.1(HSD3B2):c.742_743delGTinsAA (p.Val248Asn) rs121964896
NM_001166120.1(HSD3B2):c.776C>T (p.Thr259Met) rs80358221
NM_001173466.1(AAAS):c.835C>T (p.Arg279Ter) rs121918547
NM_001288767.1(ARMC5):c.1084C>T (p.Arg362Ter) rs369721476
NM_001288767.1(ARMC5):c.1379T>C (p.Leu460Pro) rs587777663
NM_001288767.1(ARMC5):c.1928T>C (p.Leu643Pro) rs587777661
NM_001288767.1(ARMC5):c.2062C>T (p.Arg688Trp) rs587777662
NM_001288767.1(ARMC5):c.2977C>T (p.Arg993Trp) rs587777659
NM_001288767.1(ARMC5):c.541C>T (p.Gln181Ter) rs587777660
NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001354.5(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001354.5(AKR1C2):c.666T>G (p.His222Gln)
NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_001756.3(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488
NM_001756.3(SERPINA6):c.344T>A (p.Leu115His) rs113418909
NM_002070.3(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002472.2(MYH8):c.2021G>A (p.Arg674Gln) rs121434590
NM_002617.3(PEX10):c.337del (p.Leu113Trpfs) rs724159999
NM_002618.3(PEX13):c.937T>G (p.Trp313Gly) rs61752113
NM_002618.3(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002734.3(PRKAR1A):c.491_492delTG (p.Val164Aspfs) rs281864790
NM_002734.4(PRKAR1A):c.-7+1G>A rs587776773
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_003000.2(SDHB):c.(?_-151)_(72+1_73-1)del
NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) rs121917755
NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.2(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.591delC (p.Ser198Alafs) rs1060503757
NM_003000.2(SDHB):c.716_719delCTCT (p.Ser239Tyrfs) rs587781266
NM_003000.2(SDHB):c.725G>A (p.Arg242His) rs74315368
NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) rs74315369
NM_003001.3(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003001.3(SDHC):c.405+1G>T rs587776653
NM_003002.2(SDHD):c.337_340delGACT (p.Asp113Metfs) rs587776648
NM_003002.2(SDHD):c.94_95delTC (p.Ala33Ilefs) rs397514034
NM_003002.3(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.3(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.3(SDHD):c.14G>A (p.Trp5Ter) rs104894310
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.3(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.3(SDHD):c.277_279del (p.Tyr93del) rs121908983
NM_003002.3(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.3(SDHD):c.337_338insT (p.Asp113Valfs) rs587776645
NM_003002.3(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.3(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.3(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.3(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.3(SDHD):c.443delG (p.Gly148Alafs) rs587776646
NM_003002.3(SDHD):c.463delA (p.Met155Cysfs) rs587776647
NM_003002.3(SDHD):c.52+2T>G rs587776644
NM_003002.3(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.3(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003719.3(PDE8B):c.914A>C (p.His305Pro) rs121918360
NM_003846.2(PEX11B):c.64C>T (p.Gln22Ter) rs397515419
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.3(SDHA):c.1765C>T (p.Arg589Trp) rs387906780
NM_004168.3(SDHA):c.223C>T (p.Arg75Ter) rs781764920
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004285.3(H6PD):c.1076G>A (p.Gly359Asp) rs387907167
NM_004285.3(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621Thrfs) rs606231222
NM_004285.3(H6PD):c.325del (p.Arg109Alafs) rs398122818
NM_004285.3(H6PD):c.948C>G (p.Tyr316Ter) rs398122817
NM_004285.3(H6PD):c.960G>A (p.Val320=) rs398122816
NM_004366.4(CLCN2):c.71G>A (p.Gly24Asp) rs1085307938
NM_004813.2(PEX16):c.992A>G (p.Tyr331Cys) rs397514472
NM_005154.4(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.4(USP8):c.2155_2157delTCC (p.Ser719del) rs672601306
NM_005154.4(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_012343.3(NNT):c.1107_1110del (p.His370Terfs) rs786205345
NM_012343.3(NNT):c.1598C>T (p.Ala533Val) rs387907232
NM_012343.3(NNT):c.211C>T (p.Arg71Ter) rs886039790
NM_012343.3(NNT):c.2930T>C (p.Leu977Pro) rs387907233
NM_012343.3(NNT):c.3022G>C (p.Ala1008Pro) rs387907234
NM_012343.3(NNT):c.3027T>G (p.Asn1009Lys) rs370273690
NM_012343.3(NNT):c.385C>T (p.Arg129Ter) rs886039789
NM_012343.3(NNT):c.600-1del rs786205344
NM_012343.3(NNT):c.644T>C (p.Phe215Ser) rs886039786
NM_013335.3(GMPPA):c.1000A>C (p.Thr334Pro) rs397518461
NM_013335.3(GMPPA):c.210del (p.Ala71Profs) rs886037654
NM_013335.3(GMPPA):c.295C>T (p.Arg99Ter) rs397518460
NM_013335.3(GMPPA):c.545G>A (p.Gly182Asp) rs397518462
NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) rs121908164
NM_015665.5(AAAS):c.1087+1G>A rs1035139364
NM_015665.5(AAAS):c.1288C>T (p.Leu430Phe) rs121918551
NM_015665.5(AAAS):c.1331+1G>A rs150511103
NM_015665.5(AAAS):c.1432C>T (p.Arg478Ter) rs121918548
NM_015665.5(AAAS):c.251G>A (p.Trp84Ter) rs754637718
NM_015665.5(AAAS):c.400-2A>G
NM_015665.5(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_015665.6(AAAS):c.980dup (p.Ser328Ilefs) rs387906326
NM_016953.3(PDE11A):c.919C>T (p.Arg307Ter) rs76308115
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017929.5(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_017929.5(PEX26):c.254dup (p.Cys86Valfs) rs61752133
NM_017929.5(PEX26):c.292C>T (p.Arg98Trp) rs62641228
NM_017929.5(PEX26):c.2T>C (p.Met1Thr) rs74315506
NM_020630.4(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.4(RET):c.1833C>G (p.Cys611Trp) rs80069458
NM_020975.4(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.4(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.4(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.4(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.4(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.4(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.4(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.4(RET):c.1919C>G (p.Ala640Gly) rs78935588
NM_020975.4(RET):c.2370G>C (p.Leu790Phe) rs75030001
NM_020975.4(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.4(RET):c.[1896G>C;1897C>G;1900T>C]
NM_020975.4(RET):c.[2410G>A;2711C>G]
NM_020975.5(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.5(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_130799.2(MEN1):c.1024delG (p.Ala342Argfs) rs1555164986
NM_130799.2(MEN1):c.1087_1089delGAG (p.Glu363del) rs869025185
NM_130799.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_130799.2(MEN1):c.1307G>A (p.Trp436Ter) rs104894260
NM_130799.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267
NM_130799.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_130799.2(MEN1):c.249_252delGTCT (p.Ile85Serfs) rs587776841
NM_130799.2(MEN1):c.307delC (p.Leu103Cysfs) rs794728639
NM_130799.2(MEN1):c.358_360delAAG (p.Lys120del) rs794728657
NM_130799.2(MEN1):c.402delC (p.Phe134Leufs) rs397515385
NM_130799.2(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_130799.2(MEN1):c.628_631delACAG (p.Thr210Serfs) rs794728640
NM_130799.2(MEN1):c.654+1G>A
NM_130799.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_130799.2(MEN1):c.778C>T (p.Gln260Ter) rs104894266
NM_130799.2(MEN1):c.784-9G>A rs794728625
NM_130799.2(MEN1):c.824+1G>A
NM_153818.1(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) rs61750434
NM_153818.1(PEX10):c.764dupA (p.Leu256Alafs) rs61750435
NM_153818.1(PEX10):c.790C>T (p.Arg264Ter) rs61752092
NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) rs724160000
NM_153818.1(PEX10):c.930C>G (p.His310Gln) rs61752095
NM_153818.1(PEX10):c.992G>A (p.Arg331Gln) rs724160001
NM_181755.2(HSD11B1):c.409C>T (p.Arg137Cys) rs387907168
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883
NM_198407.2(GHSR):c.6G>A (p.Trp2Ter) rs267606843
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) rs199588904
NM_206898.1(MRAP):c.130del (p.Val44Terfs)
NM_206898.1(MRAP):c.17_23del (p.Asn6Metfs)
NM_206898.1(MRAP):c.3G>A (p.Met1Ile) rs80358231
NM_212472.2(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_212472.2(PRKAR1A):c.708+1G>T rs281864798
NM_212472.2(PRKAR1A):c.709-7_709-2delTTTTTA rs281864801
NM_212472.2(PRKAR1A):c.786_787delGGinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_212472.2(PRKAR1A):c.891+3A>G rs281864799
NR0B1, 1-BP DEL
NR0B1, 1-BP DEL, 1169C
NR0B1, 1-BP INS, 430G
NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS
NR0B1, 2-BP DEL, 388AG
NR0B1, 2.2-KB DEL/27-BP INS
NR0B1, DEL
PEX16, 1-BP DEL, 984G
PEX16, DEL, EX11
PEX6, 269-BP DEL/21-BP INS
PRKAR1A, 1-BP DEL, 710G
PRKAR1A, 16-BP DEL
PRKAR1A, 2-BP DEL, 576TG
PRKAR1A, 2-BP DEL, 845TC
SDHC, 8,372-BP DEL
SDHD, 96-KB DEL
SERPINA6, 121G-A
STAR, 1-BP DEL, 261T
TP53, 1-BP DEL, CODON 257
TP53, 11-BP DEL/5-BP INS

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