ClinVar Miner

List of variants in gene TYR reported as likely pathogenic for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
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.1037-7T>A rs61754381
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1184+2T>C rs758119014
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.157G>T (p.Gly53Cys)
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.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253
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)
NM_000372.5(TYR):c.551C>G (p.Ser184Ter) rs367543066
NM_000372.5(TYR):c.580del (p.Ile194fs) rs797046132
NM_000372.5(TYR):c.585G>A (p.Trp195Ter) rs147574809
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del) rs1565391977

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.