ClinVar Miner

List of variants reported as pathogenic for albinism by Molecular Diagnostics Laboratory, M Health: University of Minnesota

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374

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