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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	rs62637014	0.00038
NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter)	rs200125117	0.00002
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe)	rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter)	rs1468041544
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp)	rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs)	rs752193525
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)	rs62637012
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro)	rs1284009768

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