ClinVar Miner

List of variants reported as uncertain significance for adrenocortical insufficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.1122-20A>G rs61752794 0.01661
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766 0.00248
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534 0.00023
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val) rs193922536 0.00019
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000497.4(CYP11B1):c.1122-12C>T rs193922537 0.00004
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000500.9(CYP21A2):c.738+12_738+13inv

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