ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland disorder by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys) rs772900496 0.00001
NM_000475.5(NR0B1):c.1006dup (p.Val336fs) rs1926565039
NM_000500.9(CYP21A2):c.1118+1G>A rs778895502
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.405del (p.Met136fs) rs2151871966
NM_000500.9(CYP21A2):c.652-1G>A rs1397184823

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