ClinVar Miner

List of variants reported as pathogenic for adrenal cortex neoplasm

Included ClinVar conditions (7):
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ClinVar version:
Total variants: 23
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HGVS dbSNP
CLCN2, ARG172GLN
CLCN2, LYS362DEL
CLCN2, MET22LYS
CLCN2, SER865ARG
CLCN2, TYR26ASN
NM_000244.3(MEN1):c.1669A>T (p.Thr557Ser) rs121913035
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.96+1G>T rs1131691003
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_001001344.2(ATP2B3):c.1272_1277del (p.Leu425_Val426del) rs724160009
NM_001001344.2(ATP2B3):c.1273_1278del (p.Leu425_Val426del) rs724160011
NM_001001344.2(ATP2B3):c.1277_1282del (p.Val426_Val427del) rs724160012
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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