ClinVar Miner

List of variants in gene AIPL1 reported as benign for Leber congenital amaurosis 4

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Total variants: 39
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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.*606G>A rs10852881 0.63496
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_014336.5(AIPL1):c.*753G>A rs62060993 0.51826
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_014336.5(AIPL1):c.*1391C>T rs907939 0.11244
NM_014336.5(AIPL1):c.*1202C>T rs907937 0.10352
NM_014336.5(AIPL1):c.*1018G>A rs2871287 0.08814
NM_014336.5(AIPL1):c.784+18G>A rs7222126 0.05323
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.642+14G>A rs188779461 0.00682
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
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.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg) rs150656720 0.00357
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_014336.5(AIPL1):c.228T>C (p.Leu76=) rs141947237 0.00199
NM_014336.5(AIPL1):c.318G>A (p.Gln106=) rs142208422 0.00185
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_014336.5(AIPL1):c.853G>A (p.Ala285Thr) rs145430356 0.00119
NM_014336.5(AIPL1):c.854C>A (p.Ala285Glu) rs148543951 0.00119
NM_014336.5(AIPL1):c.756C>T (p.His252=) rs202182152 0.00107
NM_014336.5(AIPL1):c.234C>T (p.Ser78=) rs62635774 0.00102
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015 0.00067
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.853_854delinsAA (p.Ala285Lys) rs2150674893
NM_014336.5(AIPL1):c.96+14del
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474

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