ClinVar Miner

List of variants in gene TYR reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
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.1366+4A>G rs61754398 0.00175
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
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.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
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.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362 0.00008
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.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
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.1209G>T (p.Arg403Ser) rs104894316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.174C>G (p.Ile58Met) rs773570665 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.766C>T (p.His256Tyr) rs61754370 0.00001
NM_000372.5(TYR):c.864A>T (p.Leu288Phe) rs371985121 0.00001
NM_000372.5(TYR):c.1037-10_1041del rs2135281738
NM_000372.5(TYR):c.113C>T (p.Pro38Leu) rs759624945
NM_000372.5(TYR):c.1185-6208A>G
NM_000372.5(TYR):c.1247C>T (p.Ala416Val)
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1342_1353del (p.Asp448_Tyr451del) rs1555099590
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser)
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys) rs2135332829
NM_000372.5(TYR):c.163T>C (p.Cys55Arg)
NM_000372.5(TYR):c.301_309delinsA (p.Gly101fs)
NM_000372.5(TYR):c.307T>C (p.Cys103Arg) rs1482829698
NM_000372.5(TYR):c.601G>A (p.Ala201Thr)
NM_000372.5(TYR):c.614C>T (p.Pro205Leu)
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.736A>T (p.Ile246Phe) rs2135242705
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.819+8A>G
NM_000372.5(TYR):c.820-21A>G
NM_000372.5(TYR):c.833G>T (p.Arg278Leu)
NM_000372.5(TYR):c.997G>T (p.Asp333Tyr) rs896650424

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.