ClinVar Miner

List of variants reported as uncertain significance for 46,XY disorder of sex development of gynecological interest by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740
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
NM_000348.3(SRD5A2):c.446-10_446-8delCTT rs758063160
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) rs574377752

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