ClinVar Miner

List of variants in gene FGFR3 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 22
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HGVS dbSNP
NM_000142.4(FGFR3):c.615+6C>T rs2305182
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929
NM_000142.5(FGFR3):c.1055C>T (p.Ala352Val) rs886043604
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) rs866774930
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) rs528979086
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605
NM_000142.5(FGFR3):c.2183G>A (p.Arg728Gln) rs149924317
NM_000142.5(FGFR3):c.2201C>T (p.Ala734Val) rs555257146
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128
NM_000142.5(FGFR3):c.346C>T (p.Arg116Cys) rs886042775
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) rs766423062

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