ClinVar Miner

List of variants reported as not provided for adrenal gland disorder

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474 0.25928
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472 0.13352
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294 0.08654
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
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_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00116
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466 0.00032
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409 0.00007
NM_001395413.1(POR):c.1361G>A (p.Arg454His) rs28931608 0.00005
NM_004168.4(SDHA):c.313-7T>C rs201972549 0.00004
NM_000102.4(CYP17A1):c.297+2T>C rs764723654 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706 0.00002
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392 0.00002
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) rs775350508 0.00002
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069 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_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_002382.5(MAX):c.299G>A (p.Arg100His) rs776978293 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) rs780941330 0.00001
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) rs747249998 0.00001
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys) rs2091712008
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000176.3(NR3C1):c.2136G>A (p.Trp712Ter) rs2151475967
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.4(CYP11B1):c.928G>A (p.Glu310Lys) rs387907574
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.17TGC[6] (p.Leu10dup) rs61338903
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.293-13C>T rs6467
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) rs386134260
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) rs80338846
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004168.4(SDHA):c.245_252del (p.Glu82fs) rs1734890180
NM_004168.4(SDHA):c.456+3_456+4delinsCT rs1734966566
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188

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