ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 2; Retinitis pigmentosa 20

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Total variants: 35
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HGVS dbSNP
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166
NM_000329.3(RPE65):c.1098G>A (p.Arg366=) rs764589805
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1338+8A>G rs777211540
NM_000329.3(RPE65):c.1395A>G (p.Ser465=) rs764923358
NM_000329.3(RPE65):c.1435T>C (p.Leu479=) rs373882259
NM_000329.3(RPE65):c.1491A>G (p.Gln497=) rs766848627
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489
NM_000329.3(RPE65):c.237C>T (p.Tyr79=) rs371095928
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.496-4G>A rs138146176
NM_000329.3(RPE65):c.564C>T (p.Thr188=) rs764476046
NM_000329.3(RPE65):c.621A>G (p.Val207=) rs746032112
NM_000329.3(RPE65):c.624G>A (p.Lys208=) rs1170839612
NM_000329.3(RPE65):c.644-42del rs61752893
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021
NM_000329.3(RPE65):c.777T>C (p.Ile259=) rs762186209
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.886A>C (p.Arg296=) rs1399365841
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512
NM_000329.3(RPE65):c.95-10T>A rs547374432
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907

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