ClinVar Miner

List of variants studied for Leber congenital amaurosis by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr) rs1012947103 0.00001
NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.991-3T>G rs773372519

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