List of variants in gene CNGA3 reported as pathogenic for Achromatopsia 2

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP
NM_001079878.2(CNGA3):c.1174C>T (p.Arg392Trp)	rs137852608
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp)	rs104893621
NM_001079878.2(CNGA3):c.1256_1258delinsAG (p.Val419fs)	rs1558820471
NM_001079878.2(CNGA3):c.1531G>A (p.Val511Met)	rs104893619
NM_001079878.2(CNGA3):c.1587C>A (p.Phe529Leu)	rs104893617
NM_001079878.2(CNGA3):c.1615G>A (p.Gly539Arg)	rs104893615
NM_001079878.2(CNGA3):c.434C>T (p.Pro145Leu)	rs104893612
NM_001079878.2(CNGA3):c.67C>T (p.Arg23Ter)	rs777509481
NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys)	rs104893620
NM_001079878.2(CNGA3):c.793C>T (p.Arg265Trp)	rs104893613
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln)	rs104893614
NM_001079878.2(CNGA3):c.818C>G (p.Thr273Arg)	rs104893616
NM_001079878.2(CNGA3):c.913G>C (p.Ala305Pro)	rs146195955

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