ClinVar Miner

List of variants reported as pathogenic for Thanatophoric dysplasia type 1 by Baylor Miraca Genetics Laboratories,

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Total variants: 4

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HGVS	dbSNP
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys)	rs121913485
NM_000142.4(FGFR3):c.2419T>G (p.Ter807Gly)	rs121913101
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys)	rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys)	rs121913483

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