List of variants reported as pathogenic for adrenal gland hyperfunction

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Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)	rs146124466	0.00032
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)	rs104894068	0.00004
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)	rs28934586	0.00002
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)	rs1421641874	0.00001
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_000497.4(CYP11B1):c.1181del (p.Asn394fs)	rs1256580853
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)	rs1447069098
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	rs104894061
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1A>G (p.Met1Val)	rs137854530
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)	rs11554273
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	rs1057518907
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)	rs724160008
NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg)	rs11540945
NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly)	rs724160010
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_001001344.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del)	rs724160009
NM_001001344.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del)	rs724160011
NM_001001344.3(ATP2B3):c.1277_1282del (p.Val426_Val427del)	rs724160012
NM_001128840.3(CACNA1D):c.2222-1G>A
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met)	rs41276445
NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter)	rs1553856214
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
NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)

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