ClinVar Miner

List of variants reported for Succinate-semialdehyde dehydrogenase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137 0.00076
NM_001080.3(ALDH5A1):c.355-9C>G rs375453445 0.00045
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu) rs753168976 0.00021
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu) rs373315916 0.00009
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys) rs374232934 0.00003
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) rs201484501 0.00003
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe) rs765561257 0.00002
NM_001080.3(ALDH5A1):c.1015-2A>C rs769111673 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs) rs1759308366

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