ClinVar Miner

List of variants studied for adrenal gland disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 160
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HGVS dbSNP
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.848C>T (p.Ala283Val) rs776541692
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000244.3(MEN1):c.1181G>A (p.Arg394Gln) rs775267651
NM_000244.3(MEN1):c.488C>A (p.Ala163Asp) rs794728617
NM_000244.3(MEN1):c.898C>T (p.Arg300Trp) rs1046929915
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085
NM_000383.4(AIRE):c.652+1G>T rs199612115
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000500.9(CYP21A2):c.*13G>A
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000551.3(VHL):c.-73C>T
NM_000551.3(VHL):c.205C>G (p.Arg69Gly) rs1428175816
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.31G>C (p.Ala11Pro) rs1236604706
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_001077488.4(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_001077488.4(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_002382.5(MAX):c.25G>T (p.Val9Leu) rs201743423
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002734.4(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_003000.2(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.455C>T (p.Ser152Phe) rs200414835
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003001.3(SDHC):c.128A>G (p.Asn43Ser) rs747349777
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) rs776888362
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) rs575617625
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) rs61754481
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) rs878854635
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) rs765611464
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) rs373509391
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_015074.3(KIF1B):c.1567A>G (p.Ile523Val) rs374848403
NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) rs746831347
NM_017849.3(TMEM127):c.427G>A (p.Val143Ile) rs772153618
NM_017929.6(PEX26):c.200A>G (p.Asn67Ser) rs201884779
NM_017929.6(PEX26):c.571C>T (p.Arg191Trp) rs150451390
NM_020975.6(RET):c.1151C>G (p.Pro384Arg) rs771679592
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys) rs752322996
NM_020975.6(RET):c.1702G>A (p.Gly568Ser) rs140464432
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1891G>A (p.Asp631Asn) rs377767406
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.6(RET):c.2225C>T (p.Thr742Met) rs773256580
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn) rs377767417
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.2454G>A (p.Glu818=) rs794727131
NM_020975.6(RET):c.2522C>T (p.Pro841Leu) rs149891333
NM_020975.6(RET):c.2527G>A (p.Glu843Lys) rs755837568
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020975.6(RET):c.2945G>A (p.Arg982His) rs368550200
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020975.6(RET):c.3314C>T (p.Ala1105Val) rs532862288
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451
NM_020975.6(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_057174.2(PEX16):c.461A>G (p.Asp154Gly) rs140695185
NM_057174.2(PEX16):c.695-6C>T rs372182266
NM_153818.1(PEX10):c.1037G>A (p.Arg346His) rs140890506
NM_153818.1(PEX10):c.275G>A (p.Arg92His) rs375649043
NM_153818.1(PEX10):c.772G>C (p.Gly258Arg) rs61736380

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