ClinVar Miner

List of variants in gene TYR studied for Oculocutaneous albinism

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01433
NM_000372.5(TYR):c.178C>T (p.Leu60=) rs1939260 0.01429
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234 0.00733
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.665T>C (p.Ile222Thr) rs34878847 0.00096
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00050
NM_000372.5(TYR):c.*230G>A rs532489606 0.00036
NM_000372.5(TYR):c.454C>T (p.Pro152Ser) rs145513733 0.00024
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.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.573A>G (p.Gly191=) rs372123800 0.00016
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00009
NM_000372.5(TYR):c.1214G>A (p.Arg405His) rs772173320 0.00007
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.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.-37G>A rs755069000 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531 0.00004
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala) rs199717334 0.00003
NM_000372.5(TYR):c.833G>A (p.Arg278Gln) rs753384336 0.00003
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.1044T>C (p.Ala348=) rs771720319 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.124G>A (p.Asp42Asn) rs200960909 0.00001
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys) rs777090253 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.194T>C (p.Leu65Pro) rs886048745 0.00001
NM_000372.5(TYR):c.464C>T (p.Thr155Ile) rs920624553 0.00001
NM_000372.5(TYR):c.626C>T (p.Pro209Leu) rs746581409 0.00001
NM_000372.5(TYR):c.67G>A (p.Ala23Thr) rs1373014646 0.00001
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr) rs373333305 0.00001
NM_000372.5(TYR):c.819G>T (p.Gln273His) rs748669377 0.00001
NM_000372.5(TYR):c.865T>C (p.Cys289Arg) rs1468041471 0.00001
NM_000372.5(TYR):c.978A>G (p.Gln326=) rs1311286117 0.00001
NM_000372.5(TYR):c.-41A>G rs886048744
NM_000372.5(TYR):c.1036G>A (p.Gly346Arg) rs1013801316
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1105del (p.Tyr369fs)
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387
NM_000372.5(TYR):c.115T>C (p.Trp39Arg)
NM_000372.5(TYR):c.1168C>G (p.His390Asp) rs62645914
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr) rs748618759
NM_000372.5(TYR):c.133C>A (p.Pro45Thr) rs13312739
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala) rs1944893007
NM_000372.5(TYR):c.1442C>A (p.Ala481Glu)
NM_000372.5(TYR):c.191C>T (p.Pro64Leu) rs370798325
NM_000372.5(TYR):c.229C>G (p.Arg77Gly) rs61753184
NM_000372.5(TYR):c.272G>C (p.Cys91Ser)
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.391A>G (p.Lys131Glu)
NM_000372.5(TYR):c.593T>C (p.Ile198Thr) rs750553908
NM_000372.5(TYR):c.70T>C (p.Cys24Arg)
NM_000372.5(TYR):c.816G>C (p.Trp272Cys) rs62645902
NM_000372.5(TYR):c.826T>C (p.Cys276Arg) rs2496552273
NM_000372.5(TYR):c.865T>A (p.Cys289Ser)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.