List of variants in gene ALDH5A1 reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)	rs375628463	0.00009
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)	rs118203982	0.00007
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter)	rs118203983	0.00004
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)	rs72552281	0.00002
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	rs118203984	0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)	rs906284769	0.00001
NM_001080.3(ALDH5A1):c.610-2A>G	rs1301821497	0.00001
NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs)	rs747336313	0.00001
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs)	rs1561879345
NM_001080.3(ALDH5A1):c.1402+1G>T	rs762290992
NM_001080.3(ALDH5A1):c.503_518del (p.Ser168fs)	rs2127382430
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs)	rs755029414

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