ClinVar Miner

List of variants in gene FGFR3 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.616-40T>C rs2305183 0.21932
NM_000142.5(FGFR3):c.882T>C (p.Asn294=) rs2234909 0.20412
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_000142.5(FGFR3):c.1267-32C>T rs3135890 0.09901
NM_000142.5(FGFR3):c.603T>C (p.Ile201=) rs2305181 0.09854
NM_000142.5(FGFR3):c.417C>T (p.Asp139=) rs3135867 0.03551
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.1959+22G>A rs3135898 0.01743
NM_000142.5(FGFR3):c.1075+5C>T rs3135885 0.01659
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_000142.5(FGFR3):c.1076-13C>T rs114754024 0.00661
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.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000142.5(FGFR3):c.*5C>G rs17879364 0.00201
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00163
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178 0.00097
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_000142.5(FGFR3):c.1371C>T (p.Leu457=) rs199758988 0.00057
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.154G>A (p.Gly52Ser) rs140087676 0.00043
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000142.5(FGFR3):c.713G>A (p.Arg238Gln) rs199944818 0.00037
NM_000142.5(FGFR3):c.159C>T (p.Ser53=) rs143548893 0.00025
NM_000142.5(FGFR3):c.967G>A (p.Val323Ile) rs753520867 0.00017
NM_000142.5(FGFR3):c.1449C>T (p.Phe483=) rs545617229 0.00014
NM_000142.5(FGFR3):c.1706C>T (p.Ala569Val) rs146672976 0.00014
NM_000142.5(FGFR3):c.616-6G>A rs17883400 0.00014
NM_000142.5(FGFR3):c.1320C>T (p.Ile440=) rs190111780 0.00013
NM_000142.5(FGFR3):c.1534+15G>T rs367781042 0.00013
NM_000142.5(FGFR3):c.2168+12C>T rs369096713 0.00013
NM_000142.5(FGFR3):c.1476C>T (p.Ile492=) rs373254179 0.00010
NM_000142.5(FGFR3):c.1227C>T (p.Pro409=) rs533316478 0.00008
NM_000142.5(FGFR3):c.2217C>G (p.Pro739=) rs377293519 0.00008
NM_000142.5(FGFR3):c.1068G>A (p.Val356=) rs201947443 0.00007
NM_000142.5(FGFR3):c.1535-14C>T rs3135895 0.00007
NM_000142.5(FGFR3):c.1701G>C (p.Leu567=) rs372367824 0.00007
NM_000142.5(FGFR3):c.2148C>T (p.Pro716=) rs373967853 0.00007
NM_000142.5(FGFR3):c.660C>A (p.Pro220=) rs146927248 0.00007
NM_000142.5(FGFR3):c.1146C>T (p.Gly382=) rs762689187 0.00006
NM_000142.5(FGFR3):c.1287G>A (p.Ala429=) rs187229103 0.00006
NM_000142.5(FGFR3):c.1356C>A (p.Ala452=) rs149555011 0.00006
NM_000142.5(FGFR3):c.1498G>A (p.Ala500Thr) rs751635116 0.00006
NM_000142.5(FGFR3):c.1959+9G>A rs769392301 0.00006
NM_000142.5(FGFR3):c.473G>A (p.Arg158Gln) rs745863884 0.00006
NM_000142.5(FGFR3):c.903C>T (p.Asp301=) rs377588489 0.00006
NM_000142.5(FGFR3):c.1752G>A (p.Pro584=) rs139020690 0.00004
NM_000142.5(FGFR3):c.573C>T (p.Asn191=) rs377492283 0.00004
NM_000142.5(FGFR3):c.951C>T (p.Thr317=) rs368192848 0.00004
NM_000142.5(FGFR3):c.963A>G (p.Leu321=) rs201221388 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929 0.00003
NM_000142.5(FGFR3):c.504C>T (p.Ala168=) rs543545800 0.00003
NM_000142.5(FGFR3):c.740-9C>T rs886038257 0.00003
NM_000142.5(FGFR3):c.879G>C (p.Val293=) rs757808716 0.00003
NM_000142.5(FGFR3):c.1332C>T (p.Ser444=) rs769521432 0.00002
NM_000142.5(FGFR3):c.2418G>A (p.Thr806=) rs779088139 0.00002
NM_000142.5(FGFR3):c.870C>T (p.His290=) rs370518637 0.00002
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926 0.00001
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=) rs3135891 0.00001
NM_000142.5(FGFR3):c.1560G>A (p.Ser520=) rs776527776 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000142.5(FGFR3):c.2215C>G (p.Pro739Ala) rs1476525477 0.00001
NM_000142.5(FGFR3):c.2274+50C>T rs756761813 0.00001
NM_000142.5(FGFR3):c.409G>A (p.Gly137Arg) rs750990333 0.00001
NM_000142.5(FGFR3):c.616-14G>T rs886038256 0.00001
NM_000142.5(FGFR3):c.669C>T (p.Arg223=) rs749024125 0.00001
NM_000142.5(FGFR3):c.685G>A (p.Val229Ile) rs368831528 0.00001
NM_000142.5(FGFR3):c.*14C>T
NM_000142.5(FGFR3):c.1075+30G>C rs3135886
NM_000142.5(FGFR3):c.1109G>T (p.Gly370Val)
NM_000142.5(FGFR3):c.1115T>C (p.Val372Ala)
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1182G>T (p.Thr394=) rs771495510
NM_000142.5(FGFR3):c.1224C>T (p.Ser408=)
NM_000142.5(FGFR3):c.1254G>A (p.Pro418=)
NM_000142.5(FGFR3):c.1267-8C>T rs1553847171
NM_000142.5(FGFR3):c.1335A>G (p.Ser445=)
NM_000142.5(FGFR3):c.1413-7C>T
NM_000142.5(FGFR3):c.1534+10G>C
NM_000142.5(FGFR3):c.1546G>C (p.Asp516His)
NM_000142.5(FGFR3):c.160G>A (p.Gly54Arg)
NM_000142.5(FGFR3):c.1620C>A (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.1674G>A (p.Ala558=) rs557734169
NM_000142.5(FGFR3):c.1860C>T (p.Ala620=)
NM_000142.5(FGFR3):c.189G>A (p.Pro63=) rs140377760
NM_000142.5(FGFR3):c.192C>G (p.Pro64=)
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1957A>G (p.Asn653Asp) rs1721887181
NM_000142.5(FGFR3):c.2078C>T (p.Ser693Phe)
NM_000142.5(FGFR3):c.2100G>A (p.Val700=)
NM_000142.5(FGFR3):c.2163C>T (p.His721=)
NM_000142.5(FGFR3):c.2295G>A (p.Ala765=)
NM_000142.5(FGFR3):c.2394A>C (p.Pro798=)
NM_000142.5(FGFR3):c.2409C>T (p.Gly803=)
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.363C>T (p.Phe121=)
NM_000142.5(FGFR3):c.485A>T (p.Lys162Met)
NM_000142.5(FGFR3):c.599G>A (p.Arg200His)
NM_000142.5(FGFR3):c.615+6C>A rs2305182
NM_000142.5(FGFR3):c.720G>A (p.Thr240=)
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.749C>T (p.Pro250Leu) rs4647924
NM_000142.5(FGFR3):c.75G>A (p.Leu25=) rs762402180
NM_000142.5(FGFR3):c.84G>A (p.Glu28=)
NM_000142.5(FGFR3):c.894G>T (p.Val298=) rs886038258
NM_000142.5(FGFR3):c.921C>T (p.Thr307=) rs148518372
NM_000142.5(FGFR3):c.930+9C>G
NM_000142.5(FGFR3):c.931-640G>A
NM_000142.5(FGFR3):c.931-6_931-5del
NM_000142.5(FGFR3):c.931-710G>A
NM_000142.5(FGFR3):c.931-776C>T
NM_000142.5(FGFR3):c.939C>T (p.Gly313=)
NM_000142.5(FGFR3):c.970C>T (p.Leu324Phe)

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