ClinVar Miner

List of variants studied for Achromatopsia 2 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 5
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HGVS dbSNP
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.1174C>T (p.Arg392Trp) rs137852608
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys) rs147415641
NM_001079878.2(CNGA3):c.67C>T (p.Arg23Ter) rs777509481
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) rs104893614

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