List of variants in gene ALDH5A1 reported as likely pathogenic by Invitae

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr)	rs953870735	0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)	rs757605946	0.00001
NC_000006.11:g.(?_24502731)_(24515558_?)del
NM_001080.3(ALDH5A1):c.1015-3C>G	rs2127387935
NM_001080.3(ALDH5A1):c.1173+1G>T
NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn)	rs2127389582
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr)	rs62621664
NM_001080.3(ALDH5A1):c.727-18_733del

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