ClinVar Miner

List of variants in gene FGFR3 studied for Hypochondroplasia

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) rs587778775
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) rs1044021305
NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) rs1057517964
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.1619A>C (p.Asn540Thr) rs77722678
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.1663G>T (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.1921_1922delinsAT (p.Asp641Ile) rs1721879424
NM_000142.5(FGFR3):c.1922A>T (p.Asp641Val) rs1721879680
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) rs121913114
NM_000142.5(FGFR3):c.977T>G (p.Leu326Trp)

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