ClinVar Miner

List of variants in gene combination AR, LOC109504725 reported as pathogenic for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_000044.4(AR):c.172_174(38_?) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)
NM_000044.6(AR):c.178C>T (p.Gln60Ter) rs137852575
NM_000044.6(AR):c.179dup (p.Gln61fs) rs759327087
NM_000044.6(AR):c.180_181del (p.Gln61fs) rs869320731
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.214C>T (p.Gln72Ter) rs1555969512
NM_000044.6(AR):c.217C>T (p.Gln73Ter) rs1199988820
NM_000044.6(AR):c.220C>T (p.Gln74Ter) rs886041129
NM_000044.6(AR):c.268C>T (p.Gln90Ter) rs1555969545
NM_000044.6(AR):c.271C>T (p.Gln91Ter) rs112374098

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