ClinVar Miner

List of variants reported as likely pathogenic for Hypogonadotropic hypogonadism 2 with or without anosmia by Reproductive Endocrine Unit, Massachusetts General Hospital

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu) rs121909637 0.00010
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser) rs768957161 0.00003
NM_023110.3(FGFR1):c.1018A>G (p.Thr340Ala) rs2150755088
NM_023110.3(FGFR1):c.1025T>C (p.Leu342Ser) rs121909638
NM_023110.3(FGFR1):c.1028C>T (p.Ala343Val) rs1818935081
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.1286T>A (p.Val429Glu) rs2150680046
NM_023110.3(FGFR1):c.1552+1G>T rs2150647514
NM_023110.3(FGFR1):c.1829G>A (p.Gly610Asp) rs2150582700
NM_023110.3(FGFR1):c.1854G>T (p.Lys618Asn) rs2150581560
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.1977+1G>T rs876661334
NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln) rs1257312391
NM_023110.3(FGFR1):c.2011G>C (p.Ala671Pro) rs2150550526
NM_023110.3(FGFR1):c.2057T>C (p.Phe686Ser) rs2150537283
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly) rs397515445
NM_023110.3(FGFR1):c.2152C>T (p.Arg718Cys) rs1057520536
NM_023110.3(FGFR1):c.2165C>A (p.Pro722His) rs267606805
NM_023110.3(FGFR1):c.2172C>G (p.Asn724Lys) rs267606806
NM_023110.3(FGFR1):c.2209T>C (p.Trp737Arg) rs727505377
NM_023110.3(FGFR1):c.2231G>T (p.Arg744Ile) rs2150521749
NM_023110.3(FGFR1):c.2233C>T (p.Pro745Ser) rs2150521592
NM_023110.3(FGFR1):c.2235_2238dup (p.Phe747fs) rs2536775494
NM_023110.3(FGFR1):c.2241C>A (p.Phe747Leu) rs2536775368
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.289G>A (p.Gly97Ser) rs1260404537
NM_023110.3(FGFR1):c.670G>C (p.Asp224His) rs2150863079
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_023110.3(FGFR1):c.682T>G (p.Tyr228Asp) rs2150862151
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser) rs121909635
NM_023110.3(FGFR1):c.716T>C (p.Ile239Thr) rs2150859323
NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp) rs2150825999
NM_023110.3(FGFR1):c.761G>A (p.Arg254Gln) rs1820085287
NM_023110.3(FGFR1):c.797C>T (p.Thr266Ile) rs2537101266

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