ClinVar Miner

List of variants in gene TYR reported as likely pathogenic for disorder of melanin metabolism

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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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_000372.5(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.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.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
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.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.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 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.121G>A (p.Gly41Arg) rs369291837 0.00002
NM_000372.5(TYR):c.1366+1G>T rs369610829 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.1099C>T (p.His367Tyr) rs776054795 0.00001
NM_000372.5(TYR):c.1101C>A (p.His367Gln) rs139091458 0.00001
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys) rs149912348 0.00001
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557 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.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.1501dup (p.Arg501fs) rs281865328 0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val) rs1320376090 0.00001
NM_000372.5(TYR):c.551C>G (p.Ser184Ter) rs367543066 0.00001
NM_000372.5(TYR):c.606T>G (p.His202Gln) rs754661359 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.707G>A (p.Trp236Ter) rs61754367 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]
NM_000372.5(TYR):c.101A>C (p.Glu34Ala) rs1555083355
NM_000372.5(TYR):c.1037-18T>G rs781052288
NM_000372.5(TYR):c.1037-3C>G
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1039T>C (p.Phe347Leu) rs2135281765
NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1109T>A (p.Met370Lys)
NM_000372.5(TYR):c.1184+2T>C rs758119014
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg) rs1590902150
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.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) rs1590902378
NM_000372.5(TYR):c.1322C>A (p.Ser441Ter)
NM_000372.5(TYR):c.133C>A (p.Pro45Thr)
NM_000372.5(TYR):c.1392dup (p.Lys465Ter) rs1555100853
NM_000372.5(TYR):c.1405G>T (p.Glu469Ter)
NM_000372.5(TYR):c.1427_1430dup (p.Trp477fs)
NM_000372.5(TYR):c.1442C>A (p.Ala481Glu)
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.1493del (p.Leu498fs) rs763648121
NM_000372.5(TYR):c.157G>T (p.Gly53Cys) rs1591133731
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr) rs1565386425
NM_000372.5(TYR):c.240G>C (p.Trp80Cys)
NM_000372.5(TYR):c.241C>T (p.Pro81Ser)
NM_000372.5(TYR):c.259A>G (p.Arg87Gly)
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000372.5(TYR):c.353T>A (p.Leu118Ter)
NM_000372.5(TYR):c.391A>G (p.Lys131Glu)
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.440C>G (p.Ser147Ter)
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.452T>G (p.Ile151Ser) rs747095957
NM_000372.5(TYR):c.529G>C (p.Val177Leu) rs138487695
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049
NM_000372.5(TYR):c.549del (p.Ser184fs)
NM_000372.5(TYR):c.580del (p.Ile194fs) rs797046132
NM_000372.5(TYR):c.585G>A (p.Trp195Ter) rs147574809
NM_000372.5(TYR):c.593T>C (p.Ile198Thr)
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.635G>C (p.Arg212Thr)
NM_000372.5(TYR):c.650G>C (p.Arg217Pro)
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.692_696del (p.Phe231fs)
NM_000372.5(TYR):c.696del (p.Ile233fs)
NM_000372.5(TYR):c.731G>A (p.Cys244Tyr)
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
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.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000372.5(TYR):c.820-2A>G
NM_000372.5(TYR):c.820-3C>G rs61754371
NM_000372.5(TYR):c.820-3del rs763374476
NM_000372.5(TYR):c.838G>T (p.Glu280Ter)
NM_000372.5(TYR):c.862_863del (p.Leu288fs) rs2135253151
NM_000372.5(TYR):c.865T>A (p.Cys289Ser)
NM_000372.5(TYR):c.902C>G (p.Pro301Arg)
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del) rs1565391977
NM_000372.5(TYR):c.97A>G (p.Lys33Glu)
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000372.5(TYR):c.994A>G (p.Met332Val)
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415
NM_000372.5(TYR):c.[1205G>A;575C>A]

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