List of variants in gene AIPL1 reported as likely 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)	rs201883601	0.00001
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)	rs1208703297	0.00001
NM_014336.4:c.(?_-1)_(276+1_277-1)del
NM_014336.5(AIPL1):c.301T>C (p.Ser101Pro)
NM_014336.5(AIPL1):c.601T>A (p.Tyr201Asn)
NM_014336.5(AIPL1):c.809G>A (p.Arg270His)	rs2543878362

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