List of variants reported as pathogenic for congenital stationary night blindness autosomal dominant 2

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)	rs1325957874	0.00010
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn)	rs764605140	0.00006
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)	rs373037737	0.00003
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)	rs970768801	0.00001
NM_000283.4(PDE6B):c.2193+1G>A	rs727504075
NM_000283.4(PDE6B):c.772C>A (p.His258Asn)	rs121918582

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