ClinVar Miner

List of variants in gene AIPL1 reported as likely benign for Leber congenital amaurosis 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_014336.4(AIPL1):c.*1009A>G rs4577135
NM_014336.4(AIPL1):c.*1018G>A rs2871287
NM_014336.4(AIPL1):c.*1178C>T rs149460055
NM_014336.4(AIPL1):c.*1202C>T rs907937
NM_014336.4(AIPL1):c.*1229C>T rs907938
NM_014336.4(AIPL1):c.*1237C>T rs139074266
NM_014336.4(AIPL1):c.*1289G>A rs11869118
NM_014336.4(AIPL1):c.*134G>T rs2090068
NM_014336.4(AIPL1):c.*1391C>T rs907939
NM_014336.4(AIPL1):c.*151_*152del rs77115868
NM_014336.4(AIPL1):c.*1568G>A rs11869066
NM_014336.4(AIPL1):c.*1658T>C rs78526307
NM_014336.4(AIPL1):c.*188G>A rs1317185
NM_014336.4(AIPL1):c.*221G>A rs112307858
NM_014336.4(AIPL1):c.*33A>C rs140472462
NM_014336.4(AIPL1):c.*390G>T rs182504714
NM_014336.4(AIPL1):c.*606G>A rs10852881
NM_014336.4(AIPL1):c.*753G>A rs62060993
NM_014336.4(AIPL1):c.*824G>C rs145706166
NM_014336.4(AIPL1):c.-106C>A rs7211442
NM_014336.4(AIPL1):c.-107C>G rs149098937
NM_014336.4(AIPL1):c.111C>T (p.Phe37=) rs11650007
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.4(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.4(AIPL1):c.277-10A>C rs12453262
NM_014336.4(AIPL1):c.277-14G>A rs117749485
NM_014336.4(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.4(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.4(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.4(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.4(AIPL1):c.642+14G>A rs188779461
NM_014336.4(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_014336.4(AIPL1):c.765T>C (p.Asp255=) rs62637018
NM_014336.4(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014336.4(AIPL1):c.97-9G>A rs140124986

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