ClinVar Miner

List of variants in gene FGFR3 reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_000142.4(FGFR3):c.615+6C>T rs2305182
NM_000142.4(FGFR3):c.615+8C>G rs17878375
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928
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 rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) rs866774930
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) rs528979086
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.169G>A (p.Val57Met) rs61735064
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190
NM_000142.5(FGFR3):c.2183G>A (p.Arg728Gln) rs149924317
NM_000142.5(FGFR3):c.2201C>T (p.Ala734Val) rs555257146
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128
NM_000142.5(FGFR3):c.346C>T (p.Arg116Cys) rs886042775
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.5(FGFR3):c.603T>C (p.Ile201=) rs2305181
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) rs766423062
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
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) rs2234909

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