ClinVar Miner

List of variants in gene FSHR reported as likely pathogenic for 46 XX gonadal dysgenesis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_000145.3(FSHR):c.1043C>G (p.Pro348Arg) rs386833510
NM_000145.3(FSHR):c.1724C>T (p.Ala575Val) rs386833511
NM_000145.3(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000145.3(FSHR):c.1801C>G (p.Leu601Val) rs386833513
NM_000145.3(FSHR):c.662T>G (p.Val221Gly) rs386833514
NM_000145.3(FSHR):c.671A>T (p.Asp224Val) rs386833515

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