ClinVar Miner

List of variants in gene FGFR1 reported as pathogenic by GeneDx

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.1042G>A (p.Gly348Arg) rs886037634
NM_023110.3(FGFR1):c.1431-1G>A rs886041780
NM_023110.3(FGFR1):c.1589C>A (p.Ser530Ter) rs1554551706
NM_023110.3(FGFR1):c.1764_1774del (p.Ser588fs) rs1057518218
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1839T>G (p.Tyr613Ter) rs1554549628
NM_023110.3(FGFR1):c.1864C>G (p.Arg622Gly) rs121909628
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.2052G>A (p.Trp684Ter) rs1554547400
NM_023110.3(FGFR1):c.2059G>A (p.Gly687Arg) rs727505376
NM_023110.3(FGFR1):c.2152C>G (p.Arg718Gly) rs1057520536
NM_023110.3(FGFR1):c.2187-1G>A rs2150524268
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.752C>T (p.Ser251Phe) rs1064793120
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.962_963del (p.Lys321fs) rs2150758220

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