List of variants studied for Thanatophoric dysplasia type 1

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000142.4(FGFR3):c.[1454A>G;1620C>A]
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)	rs121913479
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)	rs121913484
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	rs121913485
NM_000142.5(FGFR3):c.1519G>A (p.Val507Met)	rs1560437651
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)	rs121913105
NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala)	rs1358618786
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)	rs121913101
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)	rs121913101
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)	rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)	rs397515514
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)	rs121913103
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)	rs121913103
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys)	rs121913103
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	rs121913483

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