ClinVar Miner

List of variants studied for adrenal gland hyperfunction by Baylor Genetics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln) rs375401465 0.00007
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His) rs748152068 0.00001
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp) rs772551729 0.00001
NM_001128840.3(CACNA1D):c.4924-6A>G rs1475661078 0.00001
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg) rs1176833638 0.00001
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala)
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln) rs2094189629
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys) rs773893318

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