ClinVar Miner

List of variants in gene FGFR3 studied for not specified

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.-102-3T>C rs10023340 0.99671
NM_000142.5(FGFR3):c.1953G>A (p.Thr651=) rs7688609 0.95729
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.930+72C>G rs2305184 0.19439
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.1953= (p.Thr651=) rs7688609 0.04271
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.1076-17C>T rs17881967 0.02051
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.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.616-15C>T rs17883683 0.00494
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.2205C>G (p.Pro735=) rs145020302 0.00287
NM_000142.5(FGFR3):c.*5C>G rs17879364 0.00201
NM_000142.5(FGFR3):c.1535-20G>A rs113557371 0.00174
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064 0.00163
NM_000142.5(FGFR3):c.678C>T (p.Tyr226=) rs141575580 0.00142
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356 0.00101
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.1349C>T (p.Thr450Met) rs56240927 0.00083
NM_000142.5(FGFR3):c.1646-4C>T rs200428838 0.00054
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.130G>A (p.Gly44Ser) rs146080119 0.00036
NM_000142.5(FGFR3):c.807C>T (p.Ser269=) rs199614237 0.00021
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984 0.00014
NM_000142.5(FGFR3):c.2169-13G>A rs370060233 0.00014
NM_000142.5(FGFR3):c.616-6G>A rs17883400 0.00014
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.2270C>G (p.Thr757Ser) rs748763892 0.00010
NM_000142.5(FGFR3):c.740-17G>A rs371424896 0.00010
NM_000142.5(FGFR3):c.1227C>T (p.Pro409=) rs533316478 0.00008
NM_000142.5(FGFR3):c.739+16C>T rs757999433 0.00008
NM_000142.5(FGFR3):c.1535-14C>T rs3135895 0.00007
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=) rs754598297 0.00004
NM_000142.5(FGFR3):c.21C>T (p.Ala7=) rs779195790 0.00004
NM_000142.5(FGFR3):c.2417C>T (p.Thr806Met) rs374547489 0.00004
NM_000142.5(FGFR3):c.2249G>T (p.Arg750Leu) rs762888506 0.00003
NM_000142.5(FGFR3):c.740-9C>T rs886038257 0.00003
NM_000142.5(FGFR3):c.1332C>T (p.Ser444=) rs769521432 0.00002
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000142.5(FGFR3):c.1576A>G (p.Met526Val) rs766053734 0.00002
NM_000142.5(FGFR3):c.1645+17C>T rs765768657 0.00002
NM_000142.5(FGFR3):c.1031C>T (p.Ser344Phe) rs199702395 0.00001
NM_000142.5(FGFR3):c.1056G>A (p.Ala352=) rs765849160 0.00001
NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926 0.00001
NM_000142.5(FGFR3):c.1262G>A (p.Arg421Gln) rs587778355 0.00001
NM_000142.5(FGFR3):c.1290C>T (p.Ser430=) rs3135891 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000142.5(FGFR3):c.1486A>G (p.Lys496Glu) rs587778359 0.00001
NM_000142.5(FGFR3):c.1559C>T (p.Ser520Leu) rs587778356 0.00001
NM_000142.5(FGFR3):c.1645+4G>C rs1367336734 0.00001
NM_000142.5(FGFR3):c.1646-17G>A rs1269493186 0.00001
NM_000142.5(FGFR3):c.1756G>A (p.Glu586Lys) rs576023546 0.00001
NM_000142.5(FGFR3):c.2274+50C>T rs756761813 0.00001
NM_000142.5(FGFR3):c.370C>T (p.Arg124Trp) rs199740841 0.00001
NM_000142.5(FGFR3):c.379+18G>A rs775716751 0.00001
NM_000142.5(FGFR3):c.381C>T (p.Asp127=) rs762778478 0.00001
NM_000142.5(FGFR3):c.615+11C>T rs780810190 0.00001
NM_000142.5(FGFR3):c.615+20T>C rs1374050784 0.00001
NM_000142.5(FGFR3):c.616-14G>T rs886038256 0.00001
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464 0.00001
NC_000004.11:g.(?_1795019)_(1795771_1800980)dup
NM_000142.5(FGFR3):c.1075+30G>C rs3135886
NM_000142.5(FGFR3):c.109G>A (p.Glu37Lys) rs1553842213
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1316G>C (p.Arg439Pro)
NM_000142.5(FGFR3):c.1411dup (p.Arg471fs)
NM_000142.5(FGFR3):c.1534+14G>T rs374221323
NM_000142.5(FGFR3):c.1549A>G (p.Lys517Glu)
NM_000142.5(FGFR3):c.1630G>T (p.Ala544Ser)
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.1765C>G (p.Leu589Val) rs587778357
NM_000142.5(FGFR3):c.184C>G (p.Pro62Ala) rs533866031
NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000142.5(FGFR3):c.2031-4G>A
NM_000142.5(FGFR3):c.2152A>G (p.Asn718Asp) rs587778358
NM_000142.5(FGFR3):c.2334del (p.Ser779fs)
NM_000142.5(FGFR3):c.2374dup (p.Asp792fs) rs1057518205
NM_000142.5(FGFR3):c.299C>G (p.Ser100Cys) rs587778352
NM_000142.5(FGFR3):c.599G>T (p.Arg200Leu) rs587778353
NM_000142.5(FGFR3):c.62C>A (p.Ser21Tyr) rs587778351
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000142.5(FGFR3):c.768G>T (p.Gln256His) rs587778354
NM_000142.5(FGFR3):c.894G>T (p.Val298=) rs886038258
NM_000142.5(FGFR3):c.931-712G>C

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