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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	rs11554273	0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His)	rs121913495	0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)	rs1293789661	0.00001
NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val)	rs786205050	0.00001
CLCN2, LYS362DEL
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)	rs11554273
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)	rs386834264
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)	rs386352319
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)	rs587777437
NM_000890.5(KCNJ5):c.470T>G (p.Ile157Ser)	rs587777438
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)	rs387906778
NM_000890.5(KCNJ5):c.736G>A (p.Glu246Lys)	rs587777439
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met)	rs41276445
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg)	rs1553853557
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys)	rs758379595
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)	rs1085307938
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn)	rs1553857113

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