List of variants in gene AIPL1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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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.364G>C (p.Gly122Arg)	rs201883601	0.00001
NM_014336.5(AIPL1):c.50T>C (p.Leu17Pro)	rs773387922

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