ClinVar Miner

List of variants reported as benign 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: 16
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NM_000044.6(AR):c.1370_1372GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747
NM_000044.6(AR):c.171_173GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) rs28383048
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064

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