ClinVar Miner

List of variants in gene AR reported as uncertain significance for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740
NM_000044.6(AR):c.1370_1372GCG[20] (p.Gly471_Gly473dup)
NM_000044.6(AR):c.1370_1372GCG[5] (p.Gly462_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[7] (p.Gly464_Gly473del) rs746853821
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1513C>A (p.Pro505Thr) rs764238988
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.1814A>G (p.Asp605Gly) rs1555990478
NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
NM_000044.6(AR):c.2068C>A (p.His690Asn)
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2309T>G (p.Val770Gly) rs1555996870
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2512G>A (p.Glu838Lys) rs1555997775
NM_000044.6(AR):c.2633C>T (p.Thr878Ile) rs137852580
NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2752del (p.His918fs)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722

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