ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_014336.5(AIPL1):c.1008_1009AG[1] (p.Glu337fs) rs62637016
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro) rs62637010
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn) rs62637011
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg) rs62637012
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu) rs62637015

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