ClinVar Miner

List of variants in gene FGFR3 reported by ITMI

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Total variants: 19
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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.169G>A (p.Val57Met) rs61735064 0.00163
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119 0.00036
NM_000142.5(FGFR3):c.1031C>T (p.Ser344Phe) rs199702395 0.00001
NM_000142.5(FGFR3):c.1262G>A (p.Arg421Gln) rs587778355 0.00001
NM_000142.5(FGFR3):c.1486A>G (p.Lys496Glu) rs587778359 0.00001
NM_000142.5(FGFR3):c.1559C>T (p.Ser520Leu) rs587778356 0.00001
NM_000142.5(FGFR3):c.1765C>G (p.Leu589Val) rs587778357
NM_000142.5(FGFR3):c.184C>G (p.Pro62Ala) rs533866031
NM_000142.5(FGFR3):c.2152A>G (p.Asn718Asp) rs587778358
NM_000142.5(FGFR3):c.299C>G (p.Ser100Cys) rs587778352
NM_000142.5(FGFR3):c.599G>T (p.Arg200Leu) rs587778353
NM_000142.5(FGFR3):c.62C>A (p.Ser21Tyr) rs587778351
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.768G>T (p.Gln256His) rs587778354

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