ClinVar Miner

List of variants in gene FSHR studied for 46 XX gonadal dysgenesis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000145.3(FSHR):c.1043C>G (p.Pro348Arg) rs386833510
NM_000145.3(FSHR):c.1255G>A (p.Ala419Thr) rs121909661
NM_000145.3(FSHR):c.1555C>A (p.Pro519Thr) rs121909662
NM_000145.3(FSHR):c.1717C>T (p.Arg573Cys) rs121909660
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.479T>C (p.Ile160Thr) rs121909659
NM_000145.3(FSHR):c.566C>T (p.Ala189Val) rs121909658
NM_000145.3(FSHR):c.662T>G (p.Val221Gly) rs386833514
NM_000145.3(FSHR):c.671A>T (p.Asp224Val) rs386833515

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