ClinVar Miner

List of variants studied for Leber congenital amaurosis 5 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.38A>G (p.Glu13Gly) rs186642323 0.00025
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser) rs181890907 0.00020
NM_001122769.3(LCA5):c.511C>T (p.Leu171Phe) rs745520623 0.00004
NM_001122769.3(LCA5):c.2006G>A (p.Arg669Lys) rs371733166

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