List of variants in gene FGFR1 reported as likely pathogenic for Hypogonadotropic hypogonadism 7 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs)	rs727505371
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)	rs121909641
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	rs121909628
NM_023110.3(FGFR1):c.1916T>C (p.Ile639Thr)	rs727505370
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg)	rs727505376
NM_023110.3(FGFR1):c.2209T>C (p.Trp737Arg)	rs727505377
NM_023110.3(FGFR1):c.296A>G (p.Tyr99Cys)	rs727505373
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)	rs727505369

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