List of variants in gene combination ALDH7A1, LOC112997555 reported as uncertain significance for Pyridoxine-dependent epilepsy

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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_001182.5(ALDH7A1):c.*1059G>A	rs541187121	0.00196
NM_001182.5(ALDH7A1):c.*1058C>T	rs111675585	0.00075
NM_001182.5(ALDH7A1):c.*1053G>A	rs555808054	0.00017
NM_001182.5(ALDH7A1):c.*980del	rs886059846	0.00008
NM_001182.5(ALDH7A1):c.*1002del	rs886059845	0.00001
NM_001182.5(ALDH7A1):c.*1000dup	rs60217601
NM_001182.5(ALDH7A1):c.1002_1003insA	rs886059844
NM_001182.5(ALDH7A1):c.*1004dup	rs886059843
NM_001182.5(ALDH7A1):c.*1156C>A	rs181404590
NM_001182.5(ALDH7A1):c.*1176G>A	rs886059842
NM_001182.5(ALDH7A1):c.998_1000dup	rs60217601
NM_001182.5(ALDH7A1):c.999_1000dup	rs60217601

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