ClinVar Miner

List of variants in gene FGFR2 reported as likely pathogenic by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 8
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HGVS dbSNP
NM_022970.3(FGFR2):c.1648A>C (p.Asn550His) rs1057519045
NM_022970.3(FGFR2):c.1648_1649delinsCT (p.Asn550Leu) rs1057519046
NM_022970.3(FGFR2):c.1697A>C (p.Glu566Ala) rs121918506
NM_022970.3(FGFR2):c.1697A>G (p.Glu566Gly) rs121918506
NM_022970.3(FGFR2):c.1925A>G (p.Lys642Arg) rs1057519047
NM_022970.3(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_022970.3(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_022970.3(FGFR2):c.842A>G (p.Tyr281Cys) rs1057519038

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