ClinVar Miner

List of variants studied for ocular albinism by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000273.3(GPR143):c.548+2T>A rs2083438278
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374

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