ClinVar Miner

List of variants in gene FGFR3 reported as pathogenic for Thanatophoric dysplasia type 1

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Total variants: 14
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HGVS dbSNP
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.4(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.4(FGFR3):c.2419T>C (p.Ter807Arg) rs121913101
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.4(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.4(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000142.4(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.4(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.4(FGFR3):c.[1454A>G;1620C>A]

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