ClinVar Miner

List of variants reported as pathogenic for Congenital stationary night blindness 2A by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)	rs886039559	0.00001
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter)	rs1057518829

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