ClinVar Miner

List of variants studied for Leber congenital amaurosis 5 by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NC_000006.12:g.79536910_79538507del
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253

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