ClinVar Miner

List of variants studied for Succinate-semialdehyde dehydrogenase deficiency by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1014+723_1173+796del
NM_001080.3(ALDH5A1):c.1343+1G>T rs1561879380
NM_001080.3(ALDH5A1):c.321G>A (p.Glu107=) rs1764675543
NM_001080.3(ALDH5A1):c.727-3298G>A rs1561872640

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