ClinVar Miner

List of variants reported as likely pathogenic for retinal disorder by Department of Ophthalmology, California Pacific Medical Center

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1248_1554+248del
NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) rs2098660903
NM_012193.4(FZD4):c.615del (p.Tyr206fs) rs1949299271
NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) rs1408259285

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