ClinVar Miner

List of variants in gene FGFR1 reported as pathogenic by Invitae

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NC_000008.10:g.(?_38314854)_(38314964_?)del
NC_000008.11:g.(?_38424489)_(38461126_?)del
NM_023110.3(FGFR1):c.1037_1038del (p.Ser346fs) rs727505371
NM_023110.3(FGFR1):c.111del (p.Val38fs)
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) rs121909634
NM_023110.3(FGFR1):c.1265dup (p.Leu423fs) rs2150705198
NM_023110.3(FGFR1):c.1430+1G>A rs1554552774
NM_023110.3(FGFR1):c.1443dup (p.Lys482fs)
NM_023110.3(FGFR1):c.1468G>A (p.Gly490Arg) rs869025670
NM_023110.3(FGFR1):c.1512del (p.Lys504fs) rs1817280576
NM_023110.3(FGFR1):c.1568_1569dup (p.Asp524fs)
NM_023110.3(FGFR1):c.1631_1632dup (p.Ile545fs)
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter) rs121909628
NM_023110.3(FGFR1):c.1864dup (p.Arg622fs)
NM_023110.3(FGFR1):c.1883A>G (p.Asn628Ser)
NM_023110.3(FGFR1):c.1946del (p.His649fs)
NM_023110.3(FGFR1):c.1948del (p.His650fs)
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.1981C>T (p.Arg661Ter) rs776264072
NM_023110.3(FGFR1):c.2048T>G (p.Val683Gly)
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.246_247del (p.Glu84fs)
NM_023110.3(FGFR1):c.279_292dup (p.Leu98fs)
NM_023110.3(FGFR1):c.302G>T (p.Cys101Phe)
NM_023110.3(FGFR1):c.625del (p.Arg209fs)
NM_023110.3(FGFR1):c.749G>A (p.Arg250Gln) rs121909645
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.780del (p.Leu261fs)
NM_023110.3(FGFR1):c.817G>A (p.Val273Met) rs1131691929
NM_023110.3(FGFR1):c.979_983del (p.His327fs) rs2150757205

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