ClinVar Miner

List of variants studied for achromatopsia 2 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu)
NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg)

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