ClinVar Miner

List of variants studied for ACTH-independent Cushing syndrome

Included ClinVar conditions (9):
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Total variants: 29
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HGVS dbSNP
ARMC5, 1-BP DEL, G
NC_000002.11:g.178562111_178577218dup
NM_000516.5(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.5(GNAS):c.601C>A (p.Arg201Ser) rs11554273
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_001077196.1(PDE11A):c.479C>G (p.Ser160Ter) rs771254375
NM_001077196.1(PDE11A):c.936_940delGTCCT (p.Ser313Glnfs) rs769235876
NM_001077197.1(PDE11A):c.20_21delGA (p.Arg7Thrfs) rs202117698
NM_001077197.1(PDE11A):c.235C>T (p.Arg79Ter) rs188985665
NM_001077488.3(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
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_002730.3(PRKACA):c.597_599dup (p.Leu199_Cys200insTrp) rs724160013
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg) rs386352352
NM_002734.4(PRKAR1A):c.-7+1G>A rs587776773
NM_002734.4(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_003719.3(PDE8B):c.914A>C (p.His305Pro) rs121918360
NM_004949.4(DSC2):c.1123C>T (p.Arg375Ter)
NM_016953.3(PDE11A):c.171delT (p.Thr58Profs) rs529789124
NM_016953.3(PDE11A):c.919C>T (p.Arg307Ter) rs76308115
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.3(GNAS):c.1455C>A (p.Ala485=) rs55890501
NM_212472.2(PRKAR1A):c.709-7_709-2delTTTTTA rs281864801
PRKAR1A, 16-BP DEL

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