List of variants in gene FGFR3 reported as not provided for FGFR3-related chondrodysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)	rs761325047	0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)	rs121913105	0.00001
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys)	rs1044021305
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.1138G>A (p.Gly380Arg)	rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)	rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	rs28933068
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)	rs78311289
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.1950G>T (p.Lys650Asn)	rs28928868
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
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	rs4647924
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys)	rs121913115

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