ClinVar Miner

List of variants in gene TYR reported as uncertain significance for albinism

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000372.5(TYR):c.*230G>A rs532489606
NM_000372.5(TYR):c.-37G>A rs755069000
NM_000372.5(TYR):c.-41A>G rs886048744
NM_000372.5(TYR):c.1044T>C (p.Ala348=)
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1065G>A (p.Ala355=)
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1214G>A (p.Arg405His)
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr) rs748618759
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.5(TYR):c.1366+4A>G rs61754398
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
NM_000372.5(TYR):c.191C>T (p.Pro64Leu) rs370798325
NM_000372.5(TYR):c.194T>C (p.Leu65Pro) rs886048745
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)
NM_000372.5(TYR):c.464C>T (p.Thr155Ile)
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091
NM_000372.5(TYR):c.573A>G (p.Gly191=) rs372123800
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847
NM_000372.5(TYR):c.67G>A (p.Ala23Thr)
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter) rs138817690
NM_000372.5(TYR):c.833G>A (p.Arg278Gln)
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000372.5(TYR):c.978A>G (p.Gln326=)
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531

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