List of variants in gene ALDH18A1 reported as likely pathogenic by GeneDx

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)	rs758219423	0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)	rs1462559161	0.00001
NM_002860.4(ALDH18A1):c.88+1G>A	rs556267618	0.00001
NM_002860.4(ALDH18A1):c.301C>T (p.Gln101Ter)	rs1566039159
NM_002860.4(ALDH18A1):c.482G>A (p.Cys161Tyr)	rs1057518541
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	rs864321670
NM_002860.4(ALDH18A1):c.809-1G>A	rs1202802893

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