ClinVar Miner

List of variants in gene FSHR reported as pathogenic for Ovarian dysgenesis 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000145.4(FSHR):c.566C>T (p.Ala189Val) rs121909658 0.00059
NM_000145.4(FSHR):c.479T>C (p.Ile160Thr) rs121909659 0.00002
NM_000145.4(FSHR):c.1717C>T (p.Arg573Cys) rs121909660 0.00001
NM_000145.4(FSHR):c.1255G>A (p.Ala419Thr) rs121909661
NM_000145.4(FSHR):c.1555C>A (p.Pro519Thr) rs121909662
NM_000145.4(FSHR):c.1760C>A (p.Pro587His) rs386833512

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