ClinVar Miner

List of variants in gene AR reported as likely 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: 10
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NM_000044.6(AR):c.1685T>C (p.Ile562Thr) rs886041050
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1850T>C (p.Leu617Pro) rs1555990488
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) rs1555995842
NM_000044.6(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.6(AR):c.2239G>A (p.Val747Met)
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108

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