ClinVar Miner

List of variants reported as pathogenic for albinism by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763

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