List of variants in gene ALDH7A1 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)	rs121912708	0.00010
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)	rs151107837	0.00003
NM_001182.5(ALDH7A1):c.1566-1G>T	rs140845195	0.00001
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter)	rs1270423610	0.00001
NM_001182.5(ALDH7A1):c.1318-1G>C	rs1258470290
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs)	rs1296037862
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)	rs387906574
NM_001182.5(ALDH7A1):c.645C>A (p.Cys215Ter)	rs1750999210
NM_001182.5(ALDH7A1):c.982C>T (p.Gln328Ter)	rs1750309299

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