ClinVar Miner

List of variants in gene FGFR3 reported as uncertain significance for Craniosynostosis syndrome

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Total variants: 26
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HGVS dbSNP
NM_000142.4(FGFR3):c.1534+6G>C rs1213940166
NM_000142.4(FGFR3):c.1645+4G>C rs1367336734
NM_000142.4(FGFR3):c.436_445+2del rs1030059712
NM_000142.4(FGFR3):c.445+2_445+5del rs756854039
NM_000142.5(FGFR3):c.1106C>T (p.Ala369Val)
NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met) rs747694886
NM_000142.5(FGFR3):c.1190G>A (p.Arg397His)
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926
NM_000142.5(FGFR3):c.1238A>G (p.Lys413Arg)
NM_000142.5(FGFR3):c.1379C>T (p.Pro460Leu)
NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) rs989826317
NM_000142.5(FGFR3):c.1742C>T (p.Thr581Ile)
NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.2150C>T (p.Ala717Val) rs749192018
NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) rs140211846
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941
NM_000142.5(FGFR3):c.433G>A (p.Gly145Ser)
NM_000142.5(FGFR3):c.518G>A (p.Arg173His) rs1441656357
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys)
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) rs766423062
NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu) rs4647924
NM_000142.5(FGFR3):c.77G>A (p.Gly26Glu) rs1221876688
NM_000142.5(FGFR3):c.916G>A (p.Val306Ile) rs774047997
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile)

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