ClinVar Miner

List of variants in gene FGFR3 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) rs2234909 0.20412
NM_000142.5(FGFR3):c.603T>C (p.Ile201=) rs2305181 0.09854
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000142.5(FGFR3):c.615+8C>G rs17878375 0.02283
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
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.1014C>T (p.Thr338=) rs4647928 0.00328
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00163
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
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.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119 0.00036
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00031
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00020
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984 0.00014
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182 0.00008
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128 0.00008
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929 0.00003
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) rs528979086 0.00003
NM_000142.5(FGFR3):c.2183G>A (p.Arg728Gln) rs149924317 0.00002
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) rs766423062 0.00002
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) rs866774930 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.2201C>T (p.Ala734Val) rs555257146 0.00001
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464 0.00001
NM_000142.5(FGFR3):c.1055C>T (p.Ala352Val) rs886043604
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.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.346C>T (p.Arg116Cys) rs886042775
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.5(FGFR3):c.615+6C>T rs2305182
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) rs121913114

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