ClinVar Miner

List of variants studied for Leber congenital amaurosis by Human Genetics - Radboudumc,Radboudumc

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Total variants: 6
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NM_006915.3(RP2):c.486_490del (p.Gly163fs) rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_153638.3(PANK2):c.1283G>A (p.Cys428Tyr) rs1012947103

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