ClinVar Miner

List of variants reported as likely pathogenic for Succinate-semialdehyde dehydrogenase deficiency

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00007
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser) rs776978579 0.00001
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr) rs953870735 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.581C>T (p.Pro194Leu) rs1759249344 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NC_000006.11:g.(?_24502731)_(24515558_?)del
NM_001080.3(ALDH5A1):c.1005C>A (p.Asn335Lys)
NM_001080.3(ALDH5A1):c.1014+723_1173+796del
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1045C>T (p.Gln349Ter) rs1581819950
NM_001080.3(ALDH5A1):c.1145C>A (p.Pro382Gln)
NM_001080.3(ALDH5A1):c.1145C>T (p.Pro382Leu)
NM_001080.3(ALDH5A1):c.1173+1G>T
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
NM_001080.3(ALDH5A1):c.1267A>T (p.Thr423Ser)
NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)
NM_001080.3(ALDH5A1):c.1321G>A (p.Gly441Arg)
NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn) rs2127389582
NM_001080.3(ALDH5A1):c.1388del (p.Asp463fs)
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001080.3(ALDH5A1):c.1429C>T (p.Gln477Ter)
NM_001080.3(ALDH5A1):c.1459G>C (p.Val487Leu)
NM_001080.3(ALDH5A1):c.1460T>A (p.Val487Glu)
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu) rs999671766
NM_001080.3(ALDH5A1):c.1501_1503del (p.Glu501del)
NM_001080.3(ALDH5A1):c.1508C>G (p.Pro503Arg)
NM_001080.3(ALDH5A1):c.1557T>G (p.Tyr519Ter)
NM_001080.3(ALDH5A1):c.275A>G (p.Asp92Gly)
NM_001080.3(ALDH5A1):c.277T>C (p.Cys93Arg)
NM_001080.3(ALDH5A1):c.305_307dup (p.Val102_Arg103insLeu)
NM_001080.3(ALDH5A1):c.354G>C (p.Lys118Asn)
NM_001080.3(ALDH5A1):c.371T>G (p.Leu124Arg)
NM_001080.3(ALDH5A1):c.384C>G (p.Tyr128Ter)
NM_001080.3(ALDH5A1):c.427del (p.Thr143fs)
NM_001080.3(ALDH5A1):c.431C>A (p.Ala144Asp)
NM_001080.3(ALDH5A1):c.466G>A (p.Glu156Lys)
NM_001080.3(ALDH5A1):c.496T>C (p.Trp166Arg) rs2127382426
NM_001080.3(ALDH5A1):c.517C>T (p.Arg173Cys)
NM_001080.3(ALDH5A1):c.527G>A (p.Gly176Glu)
NM_001080.3(ALDH5A1):c.536T>A (p.Ile179Asn)
NM_001080.3(ALDH5A1):c.574A>T (p.Lys192Ter)
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
NM_001080.3(ALDH5A1):c.604del (p.Thr202fs)
NM_001080.3(ALDH5A1):c.620C>T (p.Pro207Leu)
NM_001080.3(ALDH5A1):c.622A>C (p.Ser208Arg)
NM_001080.3(ALDH5A1):c.637C>G (p.Arg213Gly)
NM_001080.3(ALDH5A1):c.638G>T (p.Arg213Leu)
NM_001080.3(ALDH5A1):c.653C>A (p.Ala218Asp)
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs) rs1759308366
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
NM_001080.3(ALDH5A1):c.685C>T (p.Pro229Ser)
NM_001080.3(ALDH5A1):c.700C>T (p.Pro234Ser)
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr) rs62621664
NM_001080.3(ALDH5A1):c.727-18_733del
NM_001080.3(ALDH5A1):c.754G>T (p.Gly252Cys)
NM_001080.3(ALDH5A1):c.755G>T (p.Gly252Val)
NM_001080.3(ALDH5A1):c.800T>G (p.Val267Gly)
NM_001080.3(ALDH5A1):c.851G>A (p.Gly284Asp)
NM_001080.3(ALDH5A1):c.916G>A (p.Glu306Lys)

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