ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP
NC_000017.11:g.(?_68512379)_(68512548_?)del
NC_000017.11:g.(?_68512379)_(68533431_?)del
NC_000017.11:g.(?_68515394)_(68515576_?)del
NC_000017.11:g.(?_68528870)_(68530449_?)del
NM_000076.2(CDKN1C):c.815T>G (p.Ile272Ser) rs515726203
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_000076.2(CDKN1C):c.836G>T (p.Arg279Leu) rs318240750
NM_000076.2(CDKN1C):c.842G>T (p.Arg281Ile) rs886037912
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
NM_000500.5:c.293-13A>G(659A>G)
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
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>C (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_001077488.4(GNAS):c.604C>A (p.Arg202Ser) rs11554273
NM_001077488.4(GNAS):c.604C>G (p.Arg202Gly) rs11554273
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001077488.4(GNAS):c.682C>A (p.Gln228Lys) rs797045203
NM_001077488.4(GNAS):c.683A>G (p.Gln228Arg) rs121913494
NM_001077488.4(GNAS):c.683A>T (p.Gln228Leu) rs121913494
NM_001077488.4(GNAS):c.684G>T (p.Gln228His) rs137854533
NM_002734.4(PRKAR1A):c.101_105del (p.Ser34fs) rs281864788
NM_002734.4(PRKAR1A):c.109C>T (p.Gln37Ter) rs281864781
NM_002734.4(PRKAR1A):c.124C>T (p.Arg42Ter) rs281864782
NM_002734.4(PRKAR1A):c.139del (p.Met47fs) rs281864789
NM_002734.4(PRKAR1A):c.177+3A>G rs797044568
NM_002734.4(PRKAR1A):c.178-2A>G rs281864796
NM_002734.4(PRKAR1A):c.1A>G (p.Met1Val) rs281864779
NM_002734.4(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.4(PRKAR1A):c.348+1G>C rs281864797
NM_002734.4(PRKAR1A):c.489_490TG[1] (p.Val164fs) rs281864790
NM_002734.4(PRKAR1A):c.550-8_550-1del rs281864800
NM_002734.4(PRKAR1A):c.566_567delinsCAC (p.Glu189fs) rs281864792
NM_002734.4(PRKAR1A):c.638C>A (p.Ala213Asp) rs281864786
NM_002734.4(PRKAR1A):c.682C>T (p.Arg228Ter) rs281864784
NM_002734.4(PRKAR1A):c.693dup (p.Arg232Ter) rs281864793
NM_002734.4(PRKAR1A):c.708+1G>T rs281864798
NM_002734.4(PRKAR1A):c.709-7_709-2del rs281864801
NM_002734.4(PRKAR1A):c.711_712dup (p.Ser238fs) rs281864794
NM_002734.4(PRKAR1A):c.786_787delinsCT (p.Trp262_Glu263delinsCysTer) rs281864785
NM_002734.4(PRKAR1A):c.82C>T (p.Gln28Ter) rs281864780
NM_002734.4(PRKAR1A):c.846_847insA (p.Val283fs) rs281864795
NM_002734.4(PRKAR1A):c.85_95del (p.Ala29fs) rs281864787
NM_002734.4(PRKAR1A):c.891+3A>G rs281864799
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
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_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_212472.2(PRKAR1A):c.178_348del171 (p.Glu60_Lys116del) rs1555813158

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