ClinVar Miner

List of variants reported as likely pathogenic for Hypogonadotropic hypogonadism 7 with or without anosmia

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Total variants: 14
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HGVS dbSNP
NM_000216.3(ANOS1):c.1369C>T (p.Arg457Ter) rs727505374
NM_000406.2(GNRHR):c.[416G>A];[806C>T]
NM_001059.2(TACR3):c.623G>A (p.Trp208Ter) rs727505375
NM_004807.2(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589
NM_013251.3(TAC3):c.238C>A (p.Arg80Ser) rs727505372
NM_023110.2(FGFR1):c.1037_1038delCT (p.Ser346Tyrfs) rs727505371
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.2(FGFR1):c.1916T>C (p.Ile639Thr) rs727505370
NM_023110.2(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.2(FGFR1):c.2209T>C (p.Trp737Arg) rs727505377
NM_023110.2(FGFR1):c.296A>G (p.Tyr99Cys) rs727505373
NM_023110.2(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_144773.3(PROKR2):c.563C>T (p.Ser188Leu) rs376239580

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