List of variants studied for Thanatophoric dysplasia type 1 by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total variants: 13

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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

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