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: 34
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HGVS dbSNP
NC_000002.11:g.(?_31751246)_(31805989_?)dup
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) rs1602255415
NM_000044.6(AR):c.1859G>A (p.Cys620Tyr)
NM_000044.6(AR):c.2021T>C (p.Phe674Ser) rs1602272541
NM_000044.6(AR):c.2037A>C (p.Glu679Asp)
NM_000044.6(AR):c.2047C>T (p.Pro683Ser)
NM_000044.6(AR):c.2068C>A (p.His690Asn) rs1602272594
NM_000044.6(AR):c.2070C>G (p.His690Gln)
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2125G>A (p.Gly709Arg)
NM_000044.6(AR):c.2236A>T (p.Met746Leu)
NM_000044.6(AR):c.2283G>T (p.Arg761Ser)
NM_000044.6(AR):c.2420G>A (p.Cys807Tyr) rs1064793480
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2566C>A (p.Arg856Ser)
NM_000044.6(AR):c.2641C>G (p.Leu881Val)
NM_000044.6(AR):c.2678C>A (p.Pro893Gln) rs1602280356
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2752del (p.His918fs) rs1602280414
NM_000044.6(AR):c.5A>G (p.Glu2Gly)
NM_000044.6(AR):c.725C>T (p.Ala242Val)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu) rs61748122
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
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) rs72557936
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu) rs372715546

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