ClinVar Miner

List of variants in gene FGFR3 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 56
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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.930+72C>G rs2305184 0.19439
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.1076-17C>T rs17881967 0.02051
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_000142.5(FGFR3):c.109+26G>A rs17884282 0.00910
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000142.5(FGFR3):c.654G>C (p.Val218=) rs147769045 0.00703
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
NM_000142.5(FGFR3):c.1645+15G>A rs192433202 0.00533
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=) rs4647928 0.00328
NM_000142.5(FGFR3):c.1076-16G>A rs3135889 0.00296
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000142.5(FGFR3):c.1535-20G>A rs113557371 0.00174
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
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.2088C>T (p.Pro696=) rs142884145 0.00052
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00048
NM_000142.5(FGFR3):c.2169-13G>A rs370060233 0.00014
NM_000142.5(FGFR3):c.930+10C>T rs534857289 0.00014
NM_000142.5(FGFR3):c.740-17G>A rs371424896 0.00010
NM_000142.5(FGFR3):c.739+16C>T rs757999433 0.00008
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000142.5(FGFR3):c.468C>T (p.Pro156=) rs778847955 0.00006
NM_000142.5(FGFR3):c.2417C>T (p.Thr806Met) rs374547489 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_000142.5(FGFR3):c.1283A>G (p.Asn428Ser) rs138986264 0.00003
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000142.5(FGFR3):c.2169-4G>A rs758292253 0.00002
NM_000142.5(FGFR3):c.1756G>A (p.Glu586Lys) rs576023546 0.00001
NM_000142.5(FGFR3):c.343C>G (p.Gln115Glu) rs746468796 0.00001
NM_000142.5(FGFR3):c.110-67C>T
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.1647G>T (p.Gly549=) rs3135897
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) rs397515514
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.75G>A (p.Leu25=) rs762402180
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000142.5(FGFR3):c.931-797G>A
NM_000142.5(FGFR3):c.955_957del (p.Lys319del)

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