ClinVar Miner

List of variants in gene FGFR1 reported as pathogenic by OMIM

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_023110.3(FGFR1):c.1121A>G (p.Tyr374Cys) rs121909631
NM_023110.3(FGFR1):c.1141T>C (p.Cys381Arg) rs121909634
NM_023110.3(FGFR1):c.142G>A (p.Gly48Ser) rs121909640
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1867G>T (p.Asp623Tyr) rs398122946
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.2038C>T (p.Gln680Ter) rs121909636
NM_023110.3(FGFR1):c.2164C>T (p.Pro722Ser) rs121909642
NM_023110.3(FGFR1):c.2174G>A (p.Cys725Tyr) rs398122945
NM_023110.3(FGFR1):c.2292G>T (p.Gln764His) rs121909643
NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser) rs397515481
NM_023110.3(FGFR1):c.499G>T (p.Ala167Ser) rs121909630
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.989A>T (p.Asn330Ile) rs121909632

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