ClinVar Miner

List of variants in gene AIPL1 reported as likely benign for Retinitis Pigmentosa, Dominant

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.19087
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_014336.5(AIPL1):c.*134G>T rs2090068 0.01001
NM_014336.5(AIPL1):c.*1178C>T rs149460055 0.00841
NM_014336.5(AIPL1):c.*1237C>T rs139074266 0.00803
NM_014336.5(AIPL1):c.*188G>A rs1317185 0.00763
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00682
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_014336.5(AIPL1):c.*390G>T rs182504714 0.00334
NM_014336.5(AIPL1):c.*221G>A rs112307858 0.00302
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
NM_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
NM_014336.5(AIPL1):c.*824G>C rs145706166 0.00065
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*1568G>A rs11869066

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