List of variants in gene FGFR1 reported as likely pathogenic for Hypogonadotropic hypogonadism 2 with or without anosmia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 52

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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.208G>A (p.Gly70Arg)	rs140254426	0.00002
NM_023110.3(FGFR1):c.1018A>G (p.Thr340Ala)
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.1043G>A (p.Gly348Glu)	rs1818930617
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	rs121909641
NM_023110.3(FGFR1):c.1286T>A (p.Val429Glu)
NM_023110.3(FGFR1):c.1471C>T (p.Gln491Ter)	rs2150655456
NM_023110.3(FGFR1):c.1552+1G>T
NM_023110.3(FGFR1):c.1829G>A (p.Gly610Asp)
NM_023110.3(FGFR1):c.1854G>T (p.Lys618Asn)
NM_023110.3(FGFR1):c.1977+1G>A	rs876661334
NM_023110.3(FGFR1):c.1977+1G>T
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter)	rs776264072
NM_023110.3(FGFR1):c.1982G>A (p.Arg661Gln)	rs1257312391
NM_023110.3(FGFR1):c.2011G>C (p.Ala671Pro)
NM_023110.3(FGFR1):c.2057T>C (p.Phe686Ser)
NM_023110.3(FGFR1):c.2059G>C (p.Gly687Arg)	rs727505376
NM_023110.3(FGFR1):c.2075A>G (p.Glu692Gly)	rs397515445
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.211G>A (p.Val71Met)	rs561300213
NM_023110.3(FGFR1):c.2122G>T (p.Glu708Ter)	rs2150533516
NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro)	rs1815455535
NM_023110.3(FGFR1):c.2152C>T (p.Arg718Cys)
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)
NM_023110.3(FGFR1):c.2233C>T (p.Pro745Ser)
NM_023110.3(FGFR1):c.2235_2238dup (p.Phe747fs)
NM_023110.3(FGFR1):c.2241C>A (p.Phe747Leu)
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys)	rs1554570706
NM_023110.3(FGFR1):c.2460dup (p.Arg821fs)	rs1586083500
NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del)	rs1586375906
NM_023110.3(FGFR1):c.287C>G (p.Ser96Cys)
NM_023110.3(FGFR1):c.289G>A (p.Gly97Ser)
NM_023110.3(FGFR1):c.289G>C (p.Gly97Arg)	rs1260404537
NM_023110.3(FGFR1):c.514A>T (p.Lys172Ter)
NM_023110.3(FGFR1):c.625C>T (p.Arg209Cys)	rs1554564353
NM_023110.3(FGFR1):c.670G>C (p.Asp224His)
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp)	rs1246231808
NM_023110.3(FGFR1):c.682T>G (p.Tyr228Asp)
NM_023110.3(FGFR1):c.6G>A (p.Trp2Ter)	rs1554594114
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser)	rs121909635
NM_023110.3(FGFR1):c.716T>C (p.Ile239Thr)
NM_023110.3(FGFR1):c.745+2T>A	rs1586314855
NM_023110.3(FGFR1):c.748C>T (p.Arg250Trp)	rs2150826896
NM_023110.3(FGFR1):c.760C>T (p.Arg254Trp)
NM_023110.3(FGFR1):c.761G>A (p.Arg254Gln)
NM_023110.3(FGFR1):c.797C>T (p.Thr266Ile)
NM_023110.3(FGFR1):c.887A>G (p.Asn296Ser)	rs1820048488

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