ClinVar Miner

List of variants in gene FGFR3 reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia

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Total variants: 7
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HGVS dbSNP
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1331C>G (p.Ser444Cys) rs761325047
NM_000142.5(FGFR3):c.1480A>G (p.Ile494Val) rs1057519048
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) rs1057519049
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924

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