ClinVar Miner

List of variants in gene TYR reported as not provided for not provided

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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000372.2(TYR):c.-199C>A rs1799989 0.16584
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000372.5(TYR):c.1366+4A>G rs61754398 0.00175
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.289G>A (p.Gly97Arg) rs61753252 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00002
NM_000372.5(TYR):c.1075C>T (p.Gln359Ter) rs62645909 0.00001
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr) rs61754386 0.00001
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387 0.00001
NM_000372.5(TYR):c.1132C>T (p.Gln378Ter) rs61754390 0.00001
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.1315T>G (p.Phe439Val) rs281865327 0.00001
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000372.5(TYR):c.2T>C (p.Met1Thr) rs281865324 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.649del (p.Arg217fs) rs61754364 0.00001
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.766C>T (p.His256Tyr) rs61754370 0.00001
NM_000372.4(TYR):c.-683_-682insG rs281865329
NM_000372.4(TYR):c.-692_-691insC rs281865330
NM_000372.4(TYR):c.-802_-801insGAGAGGGAGA rs281865331
NM_000372.5(TYR):c.1015A>G (p.Ser339Gly) rs62645906
NM_000372.5(TYR):c.1018T>C (p.Phe340Leu) rs62645907
NM_000372.5(TYR):c.107G>A (p.Cys36Tyr) rs61753179
NM_000372.5(TYR):c.1081A>C (p.Ser361Arg) rs61754383
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1109T>C (p.Met370Thr) rs61754385
NM_000372.5(TYR):c.1126C>T (p.Gln376Ter) rs61754389
NM_000372.5(TYR):c.1138T>C (p.Ser380Pro) rs61754391
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1161del (p.Leu388fs) rs281865521
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1168C>G (p.His390Asp) rs62645914
NM_000372.5(TYR):c.1183A>G (p.Ser395Gly) rs62645915
NM_000372.5(TYR):c.1211A>C (p.His404Pro) rs62645920
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1292C>T (p.Pro431Leu) rs281865325
NM_000372.5(TYR):c.1314_1317del (p.Phe438fs) rs281865326
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1357C>T (p.Gln453Ter) rs62645924
NM_000372.5(TYR):c.1366+5A>G rs61754397
NM_000372.5(TYR):c.149C>G (p.Ser50Ter) rs61753181
NM_000372.5(TYR):c.155G>T (p.Arg52Ile) rs61753182
NM_000372.5(TYR):c.223del (p.Asp75fs) rs281865523
NM_000372.5(TYR):c.232G>T (p.Glu78Ter) rs61753186
NM_000372.5(TYR):c.240G>A (p.Trp80Ter) rs61753189
NM_000372.5(TYR):c.25del (p.Leu9fs) rs281865524
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.344_345del (p.Arg115fs) rs61753255
NM_000372.5(TYR):c.456C>T (p.Pro152=) rs61753257
NM_000372.5(TYR):c.458dup (p.Gly154fs) rs61753258
NM_000372.5(TYR):c.526T>A (p.Phe176Ile) rs61753259
NM_000372.5(TYR):c.53del (p.Gly18fs) rs61753176
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.57T>A (p.His19Gln) rs61753177
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.649C>G (p.Arg217Gly) rs63159160
NM_000372.5(TYR):c.680_682del (p.Gly227del) rs61754366
NM_000372.5(TYR):c.707G>C (p.Trp236Ser) rs61754367
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.841del (p.Glu281fs) rs281865526
NM_000372.5(TYR):c.891A>G (p.Leu297=) rs61754373
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.934C>G (p.Leu312Val) rs61754377
NM_000372.5(TYR):c.938C>G (p.Pro313Arg) rs61754378
NM_000372.5(TYR):c.973A>G (p.Thr325Ala) rs61754379
NM_000372.5(TYR):c.982G>C (p.Glu328Gln) rs61754380

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