ClinVar Miner

List of variants reported as uncertain significance for androgen insensitivity syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740 0.00018
NM_000044.6(AR):c.1814A>G (p.Asp605Gly) rs1555990478
NM_000044.6(AR):c.2309T>G (p.Val770Gly) rs1555996870
NM_000044.6(AR):c.2512G>A (p.Glu838Lys) rs1555997775
NM_000044.6(AR):c.2633C>T (p.Thr878Ile) rs137852580

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