ClinVar Miner

List of variants in gene FGFR3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.2169-33G>A rs3135899 0.01105
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.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000142.5(FGFR3):c.2169-5C>T rs17884617 0.00112
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) rs370408732 0.00057
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00048
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000142.5(FGFR3):c.984C>T (p.Asn328=) rs753213058 0.00008
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile) rs144546453 0.00006
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=) rs139020690 0.00004
NM_000142.5(FGFR3):c.2316G>A (p.Pro772=) rs200629304 0.00004
NM_000142.5(FGFR3):c.792G>A (p.Thr264=) rs754400359 0.00003
NM_000142.5(FGFR3):c.931-634C>T rs755547723 0.00003
NM_000142.5(FGFR3):c.1675G>C (p.Ala559Pro) rs768385286 0.00002
NM_000142.5(FGFR3):c.1172C>T (p.Ala391Val) rs28931615 0.00001
NM_000142.5(FGFR3):c.201T>C (p.Gly67=) rs752621056 0.00001
NM_000142.5(FGFR3):c.2066C>T (p.Thr689Met) rs1455074121 0.00001
NM_000142.5(FGFR3):c.446-8G>T rs868082562 0.00001
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.1578G>A (p.Met526Ile)
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.1664T>A (p.Val555Glu) rs1254322699
NM_000142.5(FGFR3):c.1697T>C (p.Phe566Ser)
NM_000142.5(FGFR3):c.2362G>A (p.Val788Met)
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.5(FGFR3):c.687C>T (p.Val229=)
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.75G>A (p.Leu25=) rs762402180
NM_000142.5(FGFR3):c.82G>A (p.Glu28Lys)
NM_000142.5(FGFR3):c.931-640G>C rs747899858

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