ClinVar Miner

List of variants in gene TYR reported as pathogenic for albinism

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NM_000372.4(TYR):c.286dupA (p.Met96fs) rs61753190
NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) rs61754368
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316
NM_000372.5(TYR):c.1037-1G>A rs61754382
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
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.1209G>T (p.Arg403Ser) rs104894316
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363
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.658C>T (p.Gln220Ter) rs797046083
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.820-3C>G rs61754371
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.880G>A (p.Glu294Lys) rs757754120
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380

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