ClinVar Miner

List of variants reported as uncertain significance for 46,XY disorder of sex development of gynecological interest by Invitae

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
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.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.2437C>T (p.Leu813Phe) rs1555997625
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
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu)
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308
NM_000941.3(POR):c.1384G>C (p.Ala462Pro)
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu)

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