ClinVar Miner

List of variants in gene TYR studied for Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
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 0.00050
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.140G>A (p.Gly47Asp) rs61753180 0.00030
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00023
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.915C>A (p.Asp305Glu) rs142170797 0.00017
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.832C>T (p.Arg278Ter) rs62645904 0.00009
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00007
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00007
NM_000372.5(TYR):c.48C>T (p.Ser16=) rs148710429 0.00006
NM_000372.5(TYR):c.892C>T (p.Arg298Trp) rs200854796 0.00006
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00005
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000372.5(TYR):c.121G>A (p.Gly41Arg) rs369291837 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 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.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.1366+1G>T rs369610829 0.00002
NM_000372.5(TYR):c.389A>T (p.Glu130Val) rs966882228 0.00002
NM_000372.5(TYR):c.1036+13T>A rs1377064834 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1099C>T (p.His367Tyr) rs776054795 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.1199G>T (p.Trp400Leu) rs62645916 0.00001
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys) rs145610977 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.1342G>A (p.Asp448Asn) rs104894318 0.00001
NM_000372.5(TYR):c.1343A>G (p.Asp448Gly) rs753195354 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.241C>T (p.Pro81Ser) rs754654473 0.00001
NM_000372.5(TYR):c.290G>T (p.Gly97Val) rs1320376090 0.00001
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082 0.00001
NM_000372.5(TYR):c.547G>A (p.Val183Met) rs141930049 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.696del (p.Ile233fs) rs1176150416 0.00001
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr) rs373333305 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000372.5(TYR):c.1037-3C>G rs779929859
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387
NM_000372.5(TYR):c.1130T>A (p.Val377Glu) rs2496618758
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1177del (p.Val393fs)
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1259A>G (p.His420Arg) rs2135324283
NM_000372.5(TYR):c.1322C>A (p.Ser441Ter) rs544365966
NM_000372.5(TYR):c.133C>A (p.Pro45Thr) rs13312739
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) rs2496726431
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.149C>G (p.Ser50Ter) rs61753181
NM_000372.5(TYR):c.1501C>T (p.Arg501Cys)
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs) rs765024056
NM_000372.5(TYR):c.16T>A (p.Leu6Met)
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.347G>A (p.Arg116Gln)
NM_000372.5(TYR):c.353T>A (p.Leu118Ter)
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.485G>A (p.Gly162Glu)
NM_000372.5(TYR):c.49G>A (p.Ala17Thr)
NM_000372.5(TYR):c.549del (p.Ser184fs)
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.593T>C (p.Ile198Thr) rs750553908
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000372.5(TYR):c.650G>C (p.Arg217Pro)
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.692_696del (p.Phe231fs)
NM_000372.5(TYR):c.731G>A (p.Cys244Tyr)
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.755T>G (p.Met252Arg) rs1943262190
NM_000372.5(TYR):c.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.820-2A>G rs1304451467
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) rs1321772595
NM_000372.5(TYR):c.862_863del (p.Leu288fs) rs2135253151
NM_000372.5(TYR):c.867C>A (p.Cys289Ter)
NM_000372.5(TYR):c.895C>T (p.Arg299Cys) rs61754374
NM_000372.5(TYR):c.902C>G (p.Pro301Arg)
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.938_939dup (p.Ser314fs) rs867751958
NM_000372.5(TYR):c.994A>G (p.Met332Val)

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