ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_001182.5(ALDH7A1):c.*1000dup rs60217601
NM_001182.5(ALDH7A1):c.*1002_*1003insA rs886059844
NM_001182.5(ALDH7A1):c.*1002del rs886059845
NM_001182.5(ALDH7A1):c.*1004dup rs886059843
NM_001182.5(ALDH7A1):c.*1059G>A rs541187121
NM_001182.5(ALDH7A1):c.*1176G>A rs886059842
NM_001182.5(ALDH7A1):c.*1209G>A rs555172968
NM_001182.5(ALDH7A1):c.*980del rs886059846
NM_001182.5(ALDH7A1):c.*998_*1000dup rs60217601
NM_001182.5(ALDH7A1):c.*999_*1000dup rs60217601

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