ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.*680G>A rs56113622 0.00888
NM_000329.3(RPE65):c.*341T>C rs74084042 0.00885
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 0.00009
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301

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