ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 4 by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.*1658T>C rs78526307 0.05230
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474

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