ClinVar Miner

List of variants reported as pathogenic for Oguchi disease by Medical Molecular Genetics Department, National Research Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000541.5(SAG):c.648+1G>C rs1700648887
NM_000541.5(SAG):c.649-1G>C rs929766806

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