ClinVar Miner

List of variants reported as pathogenic for adrenal gland hyperfunction

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
CLCN2, ARG172GLN
CLCN2, LYS362DEL
CLCN2, MET22LYS
CLCN2, SER865ARG
CLCN2, TYR26ASN
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
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.1220+678G>A rs386834264
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.515G>A (p.Arg172Gln) rs1293789661
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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