ClinVar Miner

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

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Gene type:
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Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847 0.00096
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.1352A>G (p.Tyr451Cys) rs376823382 0.00022
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.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.715C>T (p.Arg239Trp) rs774670098 0.00003
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.132T>A (p.Ser44Arg) rs755700581 0.00002
NM_000372.5(TYR):c.1366+1G>T rs369610829 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1075C>T (p.Gln359Ter) rs62645909 0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys) rs149912348 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.116G>A (p.Trp39Ter) rs775683960 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.1346A>G (p.Tyr449Cys) rs1944765423 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.239G>A (p.Trp80Ter) rs1183890194 0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val) rs1320376090 0.00001
NM_000372.5(TYR):c.2T>C (p.Met1Thr) rs281865324 0.00001
NM_000372.5(TYR):c.606T>G (p.His202Gln) rs754661359 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.626C>T (p.Pro209Leu) rs746581409 0.00001
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424 0.00001
NM_000372.5(TYR):c.649del (p.Arg217fs) rs61754364 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr) rs373333305 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.864A>T (p.Leu288Phe) rs371985121 0.00001
NM_000372.5(TYR):c.865T>C (p.Cys289Arg) rs1468041471 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
GRCh37/hg19 11q14.3(chr11:88947874-89023154)x1
NC_000011.9:g.(?_88911122)_(88961158_?)del
NC_000011.9:g.(?_88911122)_(89018142_?)del
NC_000011.9:g.(?_88924350)_(88924606_?)del
NC_000011.9:g.(?_88924350)_(88961158_?)del
NC_000011.9:g.(?_88960971)_(88961158_?)del
NC_000011.9:g.(?_89017921)_(89018142_?)del
NM_000372.5(TYR):c.1036+2T>G rs750894109
NM_000372.5(TYR):c.1036G>A (p.Gly346Arg) rs1013801316
NM_000372.5(TYR):c.1037-10_1041del rs2135281738
NM_000372.5(TYR):c.1037-3C>G
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1037G>T (p.Gly346Val) rs773970123
NM_000372.5(TYR):c.107G>A (p.Cys36Tyr) rs61753179
NM_000372.5(TYR):c.1124C>T (p.Ser375Phe)
NM_000372.5(TYR):c.1130T>A (p.Val377Glu)
NM_000372.5(TYR):c.1141_1160del (p.Ala381fs)
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1168C>G (p.His390Asp) rs62645914
NM_000372.5(TYR):c.1184+1G>C
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1195C>T (p.Gln399Ter)
NM_000372.5(TYR):c.1199G>A (p.Trp400Ter)
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)
NM_000372.5(TYR):c.1209G>C (p.Arg403Ser)
NM_000372.5(TYR):c.1225G>T (p.Glu409Ter)
NM_000372.5(TYR):c.1237del (p.Glu413fs) rs1565423615
NM_000372.5(TYR):c.124G>A (p.Asp42Asn)
NM_000372.5(TYR):c.1322C>A (p.Ser441Ter)
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1353T>G (p.Tyr451Ter)
NM_000372.5(TYR):c.135dup (p.Cys46fs)
NM_000372.5(TYR):c.1366+1G>A
NM_000372.5(TYR):c.138T>A (p.Cys46Ter) rs1565386338
NM_000372.5(TYR):c.148del (p.Ser50fs)
NM_000372.5(TYR):c.157G>T (p.Gly53Cys) rs1591133731
NM_000372.5(TYR):c.178_179del (p.Leu60fs)
NM_000372.5(TYR):c.216del (p.Val74fs) rs1565386406
NM_000372.5(TYR):c.221_222del (p.Val74fs) rs767003400
NM_000372.5(TYR):c.229C>G (p.Arg77Gly)
NM_000372.5(TYR):c.231_232delinsCT (p.Glu78Ter)
NM_000372.5(TYR):c.241C>T (p.Pro81Ser)
NM_000372.5(TYR):c.255T>A (p.Tyr85Ter) rs746208814
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.276del (p.Gly93fs)
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.301_309delinsA (p.Gly101fs)
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000372.5(TYR):c.308G>T (p.Cys103Phe) rs1943252098
NM_000372.5(TYR):c.334T>C (p.Cys112Arg)
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.359G>A (p.Arg120Lys)
NM_000372.5(TYR):c.368T>C (p.Ile123Thr) rs2135242147
NM_000372.5(TYR):c.404_621del (p.Phe135fs)
NM_000372.5(TYR):c.425A>T (p.Lys142Met)
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.455C>A (p.Pro152His)
NM_000372.5(TYR):c.525_526del (p.Phe176fs)
NM_000372.5(TYR):c.530T>A (p.Val177Asp) rs571810545
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049
NM_000372.5(TYR):c.571G>T (p.Gly191Ter)
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.573del (p.Ser192fs)
NM_000372.5(TYR):c.580del (p.Ile194fs) rs797046132
NM_000372.5(TYR):c.593T>C (p.Ile198Thr)
NM_000372.5(TYR):c.607G>T (p.Glu203Ter)
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.631C>T (p.His211Tyr)
NM_000372.5(TYR):c.649C>G (p.Arg217Gly) rs63159160
NM_000372.5(TYR):c.653G>A (p.Trp218Ter)
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.661G>T (p.Glu221Ter) rs758115945
NM_000372.5(TYR):c.667C>T (p.Gln223Ter)
NM_000372.5(TYR):c.696del (p.Ile233fs)
NM_000372.5(TYR):c.713G>A (p.Trp238Ter)
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000372.5(TYR):c.757G>A (p.Gly253Arg) rs61754369
NM_000372.5(TYR):c.758G>A (p.Gly253Glu)
NM_000372.5(TYR):c.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.781_784del (p.Asn261fs)
NM_000372.5(TYR):c.787_790del (p.Leu263fs)
NM_000372.5(TYR):c.815G>T (p.Trp272Leu)
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000372.5(TYR):c.819+1G>A
NM_000372.5(TYR):c.820-1_820delinsTG
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.825_828del (p.Cys276fs) rs2135253045
NM_000372.5(TYR):c.826T>C (p.Cys276Arg)
NM_000372.5(TYR):c.827G>A (p.Cys276Tyr)
NM_000372.5(TYR):c.838G>T (p.Glu280Ter)
NM_000372.5(TYR):c.841G>T (p.Glu281Ter)
NM_000372.5(TYR):c.862_863del (p.Leu288fs) rs2135253151
NM_000372.5(TYR):c.863T>C (p.Leu288Ser)
NM_000372.5(TYR):c.890dup (p.Leu297fs) rs2135253219
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.895C>T (p.Arg299Cys) rs61754374
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.911_914del (p.His304fs)
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000372.5(TYR):c.94G>T (p.Glu32Ter) rs1052900893
NM_000372.5(TYR):c.963C>A (p.Cys321Ter)
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000372.5(TYR):c.98A>C (p.Lys33Thr) rs1451372078
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415

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