ClinVar Miner

List of variants reported as pathogenic for adrenal gland disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898 0.00339
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000529.2(MC2R):c.459dup (p.Ile154fs) rs1555619430

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