ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851

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