ClinVar Miner

List of variants in gene FGFR3 studied for bone disorder

Included ClinVar conditions (1416):
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01724
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.1959+15G>C rs17886888 0.00149
NM_000142.5(FGFR3):c.616-6G>A rs17883400 0.00014
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00012
NM_000142.5(FGFR3):c.2362G>A (p.Val788Met) rs371433215 0.00008
NM_000142.5(FGFR3):c.1492C>T (p.Arg498Trp) rs773735098 0.00007
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00007
NM_000142.5(FGFR3):c.473G>A (p.Arg158Gln) rs745863884 0.00006
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000142.5(FGFR3):c.2294C>T (p.Ala765Val) rs140211846 0.00004
NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu) rs745848425 0.00003
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00003
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00002
NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu) rs1256546303 0.00002
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) rs77722678 0.00002
NM_000142.5(FGFR3):c.1899C>T (p.Ile633=) rs748492424 0.00002
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.2183G>A (p.Arg728Gln) rs149924317 0.00002
NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp) rs369758941 0.00002
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu) rs780415133 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) rs1057519049 0.00001
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) rs1453271838 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) rs529408918 0.00001
NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys) rs1031160906 0.00001
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580 0.00001
NM_000142.5(FGFR3):c.775C>T (p.Leu259=) rs765971064 0.00001
NM_000142.5(FGFR3):c.89G>A (p.Arg30His) rs756437064 0.00001
NM_000142.4(FGFR3):c.[1130T>G;1138G>A]
NM_000142.4(FGFR3):c.[1454A>G;1620C>A]
NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) rs587778775
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys) rs199702395
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) rs1044021305
NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) rs1057517964
NM_000142.5(FGFR3):c.1075+95C>G rs2546818546
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.1123G>T (p.Gly375Cys) rs75790268
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.1144G>A (p.Gly382Ser) rs1360936268
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) rs2108797528
NM_000142.5(FGFR3):c.1436G>T (p.Gly479Val) rs2546827745
NM_000142.5(FGFR3):c.1519G>A (p.Val507Met) rs1560437651
NM_000142.5(FGFR3):c.1537G>T (p.Asp513Tyr) rs121913112
NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu) rs1721801068
NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) rs77722678
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.1637C>A (p.Thr546Lys) rs587777857
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.166G>A (p.Ala56Thr)
NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) rs121913113
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu) rs371729802
NM_000142.5(FGFR3):c.1921_1922delinsAT (p.Asp641Ile) rs1721879424
NM_000142.5(FGFR3):c.1922A>T (p.Asp641Val) rs1721879680
NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg) rs1448029825
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala) rs1358618786
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala) rs369232922
NM_000142.5(FGFR3):c.2081C>T (p.Pro694Leu) rs2108811803
NM_000142.5(FGFR3):c.2105A>T (p.Glu702Val) rs2108812073
NM_000142.5(FGFR3):c.2287C>T (p.Leu763=) rs774517056
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) rs397515514
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) rs121913103
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) rs121913103
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) rs121913116
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) rs1721198491
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>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.797T>C (p.Val266Ala) rs2108783853
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) rs121913115
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) rs121913114
NM_000142.5(FGFR3):c.847C>T (p.Pro283Ser) rs769692611
NM_000142.5(FGFR3):c.977T>G (p.Leu326Trp) rs2546817560
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile) rs1721503041

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