ClinVar Miner

List of variants in gene TYR reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
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.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn) rs138750983 0.00047
NM_000372.5(TYR):c.1067A>T (p.Asp356Val) rs180801021 0.00037
NM_000372.5(TYR):c.*230G>A rs532489606 0.00036
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser) rs13312744 0.00032
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.454C>T (p.Pro152Ser) rs145513733 0.00024
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00023
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543 0.00022
NM_000372.5(TYR):c.1065G>A (p.Ala355=) rs1800421 0.00021
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000372.5(TYR):c.573A>G (p.Gly191=) rs372123800 0.00016
NM_000372.5(TYR):c.1184+4G>A rs117410990 0.00013
NM_000372.5(TYR):c.842A>G (p.Glu281Gly) rs146036358 0.00012
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000372.5(TYR):c.690C>A (p.Asn230Lys) rs150207593 0.00009
NM_000372.5(TYR):c.1214G>A (p.Arg405His) rs772173320 0.00007
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000372.5(TYR):c.893G>A (p.Arg298Gln) rs148815276 0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000372.5(TYR):c.470G>A (p.Gly157Asp) rs372458096 0.00005
NM_000372.5(TYR):c.886C>T (p.Pro296Ser) rs752062836 0.00005
NM_000372.5(TYR):c.-37G>A rs755069000 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala) rs199717334 0.00003
NM_000372.5(TYR):c.247G>A (p.Val83Ile) rs149684917 0.00003
NM_000372.5(TYR):c.262A>T (p.Thr88Ser) rs780573341 0.00003
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00003
NM_000372.5(TYR):c.721G>A (p.Ala241Thr) rs538081629 0.00003
NM_000372.5(TYR):c.759A>T (p.Gly253=) rs200936835 0.00003
NM_000372.5(TYR):c.833G>A (p.Arg278Gln) rs753384336 0.00003
NM_000372.5(TYR):c.875C>T (p.Thr292Met) rs61754372 0.00003
NM_000372.5(TYR):c.1046G>C (p.Ser349Thr) rs1010038586 0.00002
NM_000372.5(TYR):c.112C>A (p.Pro38Thr) rs61759520 0.00002
NM_000372.5(TYR):c.1213C>T (p.Arg405Cys) rs746811736 0.00002
NM_000372.5(TYR):c.1291C>A (p.Pro431Thr) rs368604842 0.00002
NM_000372.5(TYR):c.1309G>A (p.Asp437Asn) rs770006288 0.00002
NM_000372.5(TYR):c.1348A>T (p.Ser450Cys) rs371687306 0.00002
NM_000372.5(TYR):c.185A>G (p.Asn62Ser) rs769907583 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_000372.5(TYR):c.415A>T (p.Thr139Ser) rs751055463 0.00002
NM_000372.5(TYR):c.493C>A (p.Pro165Thr) rs760149792 0.00002
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys) rs1565392064 0.00001
NM_000372.5(TYR):c.1044T>C (p.Ala348=) rs771720319 0.00001
NM_000372.5(TYR):c.1061T>C (p.Ile354Thr) rs763127567 0.00001
NM_000372.5(TYR):c.1121T>C (p.Met374Thr) rs769024531 0.00001
NM_000372.5(TYR):c.1185T>C (p.Ser395=) rs763863353 0.00001
NM_000372.5(TYR):c.119G>A (p.Ser40Asn) rs763195455 0.00001
NM_000372.5(TYR):c.11C>T (p.Ala4Val) rs1254138989 0.00001
NM_000372.5(TYR):c.1223A>T (p.Gln408Leu) rs1944761913 0.00001
NM_000372.5(TYR):c.1276A>G (p.Met426Val) rs778017680 0.00001
NM_000372.5(TYR):c.1277T>C (p.Met426Thr) rs1362285246 0.00001
NM_000372.5(TYR):c.1279G>A (p.Val427Ile) rs1944763640 0.00001
NM_000372.5(TYR):c.1306G>T (p.Gly436Cys) rs1287652457 0.00001
NM_000372.5(TYR):c.1327A>G (p.Lys443Glu) rs1180758324 0.00001
NM_000372.5(TYR):c.1343A>G (p.Asp448Gly) rs753195354 0.00001
NM_000372.5(TYR):c.1357C>A (p.Gln453Lys) rs62645924 0.00001
NM_000372.5(TYR):c.1366+3A>T rs1254666353 0.00001
NM_000372.5(TYR):c.1397C>A (p.Ser466Tyr) rs540671125 0.00001
NM_000372.5(TYR):c.1429T>C (p.Trp477Arg) rs1238933751 0.00001
NM_000372.5(TYR):c.149C>T (p.Ser50Leu) rs61753181 0.00001
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys) rs777090253 0.00001
NM_000372.5(TYR):c.174C>G (p.Ile58Met) rs773570665 0.00001
NM_000372.5(TYR):c.194T>C (p.Leu65Pro) rs886048745 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000372.5(TYR):c.23G>A (p.Cys8Tyr) rs922323302 0.00001
NM_000372.5(TYR):c.26T>C (p.Leu9Pro) rs1238837002 0.00001
NM_000372.5(TYR):c.282C>A (p.Asn94Lys) rs200951928 0.00001
NM_000372.5(TYR):c.316G>C (p.Gly106Arg) rs759163678 0.00001
NM_000372.5(TYR):c.333C>G (p.Asn111Lys) rs1428763809 0.00001
NM_000372.5(TYR):c.398A>C (p.Lys133Thr) rs1235125199 0.00001
NM_000372.5(TYR):c.433A>G (p.Ile145Val) rs758570611 0.00001
NM_000372.5(TYR):c.446A>C (p.Tyr149Ser) rs797046082 0.00001
NM_000372.5(TYR):c.461G>A (p.Gly154Glu) rs200471520 0.00001
NM_000372.5(TYR):c.464C>T (p.Thr155Ile) rs920624553 0.00001
NM_000372.5(TYR):c.530T>C (p.Val177Ala) rs571810545 0.00001
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049 0.00001
NM_000372.5(TYR):c.553A>G (p.Met185Val) rs1943257744 0.00001
NM_000372.5(TYR):c.65G>C (p.Arg22Thr) rs781056780 0.00001
NM_000372.5(TYR):c.67G>A (p.Ala23Thr) rs1373014646 0.00001
NM_000372.5(TYR):c.682G>A (p.Asp228Asn) rs767644694 0.00001
NM_000372.5(TYR):c.754A>G (p.Met252Val) rs201920649 0.00001
NM_000372.5(TYR):c.760G>A (p.Gly254Ser) rs199500520 0.00001
NM_000372.5(TYR):c.864A>T (p.Leu288Phe) rs371985121 0.00001
NM_000372.5(TYR):c.913G>A (p.Asp305Asn) rs139893504 0.00001
NM_000372.5(TYR):c.933G>T (p.Arg311Ser) rs1488387051 0.00001
NM_000372.5(TYR):c.967A>C (p.Ser323Arg) rs1943442931 0.00001
NM_000372.5(TYR):c.978A>G (p.Gln326=) rs1311286117 0.00001
GRCh37/hg19 11q14.3(chr11:88831336-88934583)x1
GRCh37/hg19 11q14.3(chr11:88856788-88947874)x1
NM_000372.5(TYR):c.-41A>G rs886048744
NM_000372.5(TYR):c.-9_-7delinsGG rs483352878
NM_000372.5(TYR):c.1016G>T (p.Ser339Ile) rs2496553063
NM_000372.5(TYR):c.1027A>G (p.Thr343Ala) rs1172024364
NM_000372.5(TYR):c.1028C>T (p.Thr343Ile) rs1211293645
NM_000372.5(TYR):c.1037-10dup rs747032303
NM_000372.5(TYR):c.1037-3C>T rs779929859
NM_000372.5(TYR):c.1042G>T (p.Ala348Ser) rs1249646957
NM_000372.5(TYR):c.1049C>T (p.Pro350Leu)
NM_000372.5(TYR):c.1063G>T (p.Ala355Ser)
NM_000372.5(TYR):c.1081A>G (p.Ser361Gly)
NM_000372.5(TYR):c.1082G>A (p.Ser361Asn)
NM_000372.5(TYR):c.1085T>A (p.Met362Lys) rs2135281854
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.110C>G (p.Pro37Arg) rs2496527845
NM_000372.5(TYR):c.1114G>A (p.Gly372Arg) rs2496618651
NM_000372.5(TYR):c.1127A>G (p.Gln376Arg)
NM_000372.5(TYR):c.1129G>T (p.Val377Leu) rs1394026490
NM_000372.5(TYR):c.112C>G (p.Pro38Ala) rs61759520
NM_000372.5(TYR):c.1130T>A (p.Val377Glu) rs2496618758
NM_000372.5(TYR):c.1130T>C (p.Val377Ala) rs2496618758
NM_000372.5(TYR):c.1132C>A (p.Gln378Lys)
NM_000372.5(TYR):c.1136G>C (p.Gly379Ala) rs886044493
NM_000372.5(TYR):c.1139C>T (p.Ser380Phe) rs2135281916
NM_000372.5(TYR):c.113C>T (p.Pro38Leu) rs759624945
NM_000372.5(TYR):c.1150C>T (p.Pro384Ser)
NM_000372.5(TYR):c.1162C>T (p.Leu388Phe)
NM_000372.5(TYR):c.1171G>A (p.Ala391Thr) rs2135281969
NM_000372.5(TYR):c.1171G>C (p.Ala391Pro)
NM_000372.5(TYR):c.1175T>C (p.Phe392Ser)
NM_000372.5(TYR):c.1177G>C (p.Val393Leu)
NM_000372.5(TYR):c.1186A>G (p.Ile396Val) rs2496711442
NM_000372.5(TYR):c.1199G>C (p.Trp400Ser)
NM_000372.5(TYR):c.1202T>C (p.Leu401Pro) rs2135324201
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1259A>G (p.His420Arg) rs2135324283
NM_000372.5(TYR):c.1263C>A (p.Asn421Lys) rs2135324287
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr) rs748618759
NM_000372.5(TYR):c.1278G>C (p.Met426Ile)
NM_000372.5(TYR):c.1283C>T (p.Pro428Leu)
NM_000372.5(TYR):c.1292C>A (p.Pro431Gln)
NM_000372.5(TYR):c.1297T>C (p.Tyr433His) rs2135324344
NM_000372.5(TYR):c.1306G>A (p.Gly436Ser) rs1287652457
NM_000372.5(TYR):c.1319T>C (p.Ile440Thr) rs762831445
NM_000372.5(TYR):c.1324T>C (p.Ser442Pro) rs1437889928
NM_000372.5(TYR):c.1331A>G (p.Asp444Gly)
NM_000372.5(TYR):c.133C>T (p.Pro45Ser) rs13312739
NM_000372.5(TYR):c.1340A>G (p.Tyr447Cys) rs2496712100
NM_000372.5(TYR):c.1342_1353del (p.Asp448_Tyr451del) rs1555099590
NM_000372.5(TYR):c.137G>C (p.Cys46Ser) rs2496528053
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala) rs1944893007
NM_000372.5(TYR):c.139G>C (p.Gly47Arg)
NM_000372.5(TYR):c.1413G>A (p.Ala471=) rs3913544
NM_000372.5(TYR):c.1424G>T (p.Trp475Leu) rs140494827
NM_000372.5(TYR):c.1425G>C (p.Trp475Cys)
NM_000372.5(TYR):c.1445C>T (p.Ala482Val)
NM_000372.5(TYR):c.1501C>T (p.Arg501Cys)
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs) rs765024056
NM_000372.5(TYR):c.155G>C (p.Arg52Thr) rs61753182
NM_000372.5(TYR):c.157G>C (p.Gly53Arg) rs1591133731
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys) rs2135332829
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.16T>A (p.Leu6Met)
NM_000372.5(TYR):c.175C>T (p.Leu59Phe) rs1001944031
NM_000372.5(TYR):c.182C>A (p.Ser61Tyr)
NM_000372.5(TYR):c.191C>T (p.Pro64Leu) rs370798325
NM_000372.5(TYR):c.236C>G (p.Ser79Trp) rs544053015
NM_000372.5(TYR):c.258T>G (p.Asn86Lys) rs1464099781
NM_000372.5(TYR):c.263C>A (p.Thr88Asn)
NM_000372.5(TYR):c.308G>T (p.Cys103Phe) rs1943252098
NM_000372.5(TYR):c.331A>C (p.Asn111His)
NM_000372.5(TYR):c.334T>C (p.Cys112Arg)
NM_000372.5(TYR):c.347G>A (p.Arg116Gln)
NM_000372.5(TYR):c.355G>T (p.Val119Leu) rs2135242140
NM_000372.5(TYR):c.372C>G (p.Phe124Leu) rs935942144
NM_000372.5(TYR):c.373G>A (p.Asp125Asn) rs13312741
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.401T>C (p.Phe134Ser) rs33955261
NM_000372.5(TYR):c.419T>C (p.Leu140Ser) rs767033124
NM_000372.5(TYR):c.437G>A (p.Ser146Asn) rs1214974325
NM_000372.5(TYR):c.437G>T (p.Ser146Ile) rs1214974325
NM_000372.5(TYR):c.44C>T (p.Thr15Ile) rs776657313
NM_000372.5(TYR):c.455C>G (p.Pro152Arg) rs1464062644
NM_000372.5(TYR):c.463A>T (p.Thr155Ser) rs2496529372
NM_000372.5(TYR):c.485G>A (p.Gly162Glu)
NM_000372.5(TYR):c.49G>A (p.Ala17Thr)
NM_000372.5(TYR):c.505G>A (p.Asp169Asn) rs753049427
NM_000372.5(TYR):c.505_507del (p.Asp169del) rs794726885
NM_000372.5(TYR):c.521A>C (p.Asp174Ala)
NM_000372.5(TYR):c.524T>C (p.Leu175Pro) rs1064795343
NM_000372.5(TYR):c.529G>A (p.Val177Ile)
NM_000372.5(TYR):c.537G>T (p.Met179Ile) rs1413966492
NM_000372.5(TYR):c.538C>A (p.His180Asn)
NM_000372.5(TYR):c.542A>T (p.Tyr181Phe) rs2496529708
NM_000372.5(TYR):c.578A>C (p.Glu193Ala) rs751717415
NM_000372.5(TYR):c.580A>G (p.Ile194Val) rs1943258578
NM_000372.5(TYR):c.587G>A (p.Arg196Lys) rs1307621512
NM_000372.5(TYR):c.593T>A (p.Ile198Asn) rs750553908
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000372.5(TYR):c.613C>T (p.Pro205Ser) rs61754362
NM_000372.5(TYR):c.61C>A (p.Pro21Thr)
NM_000372.5(TYR):c.620T>G (p.Phe207Cys) rs2496530104
NM_000372.5(TYR):c.62C>G (p.Pro21Arg)
NM_000372.5(TYR):c.638T>C (p.Leu213Pro) rs2496530164
NM_000372.5(TYR):c.659A>G (p.Gln220Arg) rs2135242554
NM_000372.5(TYR):c.680G>A (p.Gly227Glu) rs770276552
NM_000372.5(TYR):c.680_682del (p.Gly227del) rs61754366
NM_000372.5(TYR):c.706T>C (p.Trp236Arg) rs2135242624
NM_000372.5(TYR):c.707G>C (p.Trp236Ser) rs61754367
NM_000372.5(TYR):c.708G>C (p.Trp236Cys) rs769204360
NM_000372.5(TYR):c.728A>C (p.Lys243Thr)
NM_000372.5(TYR):c.730T>G (p.Cys244Gly) rs2135242686
NM_000372.5(TYR):c.731G>C (p.Cys244Ser) rs759359525
NM_000372.5(TYR):c.736A>T (p.Ile246Phe) rs2135242705
NM_000372.5(TYR):c.73G>C (p.Val25Leu) rs1339423829
NM_000372.5(TYR):c.74T>C (p.Val25Ala) rs2533920752
NM_000372.5(TYR):c.750G>C (p.Glu250Asp) rs1419970240
NM_000372.5(TYR):c.754A>T (p.Met252Leu) rs201920649
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000372.5(TYR):c.767A>C (p.His256Pro)
NM_000372.5(TYR):c.767A>G (p.His256Arg) rs1289102976
NM_000372.5(TYR):c.797CAT[1] (p.Ser267del) rs2496530826
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del) rs1064796028
NM_000372.5(TYR):c.819G>A (p.Gln273=)
NM_000372.5(TYR):c.820-21A>G rs2496552201
NM_000372.5(TYR):c.823G>A (p.Val275Ile)
NM_000372.5(TYR):c.841G>A (p.Glu281Lys) rs142629239
NM_000372.5(TYR):c.844T>C (p.Tyr282His) rs2135253111
NM_000372.5(TYR):c.855T>A (p.His285Gln) rs2135253132
NM_000372.5(TYR):c.877C>A (p.Pro293Thr) rs1218953194
NM_000372.5(TYR):c.87C>A (p.Asn29Lys) rs748836772
NM_000372.5(TYR):c.891A>T (p.Leu297Phe) rs61754373
NM_000372.5(TYR):c.902C>G (p.Pro301Arg)
NM_000372.5(TYR):c.926C>A (p.Thr309Asn) rs770725604
NM_000372.5(TYR):c.938C>A (p.Pro313His) rs61754378
NM_000372.5(TYR):c.947C>A (p.Ala316Asp) rs2496552812
NM_000372.5(TYR):c.950A>G (p.Asp317Gly) rs750808134
NM_000372.5(TYR):c.953T>C (p.Val318Ala)
NM_000372.5(TYR):c.965T>C (p.Leu322Pro)
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000372.5(TYR):c.992C>G (p.Ser331Cys)
NM_000372.5(TYR):c.994A>T (p.Met332Leu) rs746950059
NM_000372.5(TYR):c.997G>T (p.Asp333Tyr) rs896650424

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