ClinVar Miner

List of variants in gene CACNA1F reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2086-2A>G rs1358925739 0.00001
NM_001256789.3(CACNA1F):c.1118+1G>C rs2065841382
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) rs1602621312

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