ClinVar Miner

List of variants studied for albinism by Center of Genomic medicine, Geneva,University Hospital of Geneva

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.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531

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