ClinVar Miner

List of variants in gene FGFR3 reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_000142.5(FGFR3):c.1076-17C>T rs17881967 0.02051
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_000142.5(FGFR3):c.663G>A (p.Ser221=) rs114421370 0.00485
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.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000142.5(FGFR3):c.1266+25C>T rs200827273 0.00088
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met) rs56240927 0.00083
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.159C>T (p.Ser53=) rs143548893 0.00025
NM_000142.5(FGFR3):c.915C>T (p.Tyr305=) rs144675978 0.00004
NM_000142.5(FGFR3):c.931-20G>A rs372308406 0.00003
NM_000142.5(FGFR3):c.1646-17G>A rs1269493186 0.00001
NM_000142.5(FGFR3):c.201T>C (p.Gly67=) rs752621056 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000142.5(FGFR3):c.1836+11C>A rs112949422

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