ClinVar Miner

List of variants studied for Oguchi disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_000541.5(SAG):c.682G>A (p.Val228Met) rs377019945 0.00007
NM_000541.5(SAG):c.208C>T (p.Arg70Cys) rs777934036 0.00001

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