ClinVar Miner

List of variants studied for AIPL1-related retinopathy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_014336.5(AIPL1):c.158G>A (p.Arg53Gln) rs756283764 0.00003
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) rs201875142
NM_014336.5(AIPL1):c.484T>C (p.Tyr162His)

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