ClinVar Miner

List of variants reported as likely pathogenic for retinal disorder by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_001844.5(COL2A1):c.610-17_617del rs2136619163
NM_025099.6(CTC1):c.131_134del (p.Asp44fs) rs1250113146

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