List of variants in gene ALDH18A1 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.1375C>T (p.Arg459Ter)	rs887933055	0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)	rs748925635	0.00001
NM_002860.4(ALDH18A1):c.558+1G>A	rs2097882117
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	rs864321670

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