ClinVar Miner

List of variants reported as pathogenic for Succinate-semialdehyde dehydrogenase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463 0.00009
NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg) rs72552284 0.00008
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs) rs778127154 0.00006
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) rs118203983 0.00004
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe) rs765561257 0.00002
NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter) rs758087862 0.00002
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg) rs72552281 0.00002
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys) rs751888532 0.00002
NM_001080.3(ALDH5A1):c.1015-2A>C rs769111673 0.00001
NM_001080.3(ALDH5A1):c.104_127del (p.Ser35_Gln43delinsTer) rs1561865665 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter) rs1421988285 0.00001
NM_001080.3(ALDH5A1):c.276del (p.Cys93fs) rs1294269013 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001080.3(ALDH5A1):c.610-2A>G rs1301821497 0.00001
NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs) rs747336313 0.00001
NC_000006.11:g.(?_24505077)_(24533940_?)del
NC_000006.11:g.(?_24505087)_(24533940_?)del
NC_000006.11:g.(?_24532327)_(24533940_?)del
NC_000006.12:g.(?_24527977)_(24528186_?)del
NM_001080.3(ALDH5A1):c.1015-1G>C rs2127387936
NM_001080.3(ALDH5A1):c.111_122delinsG (p.Ala38fs)
NM_001080.3(ALDH5A1):c.1183C>T (p.Gln395Ter)
NM_001080.3(ALDH5A1):c.1184del (p.Gln395fs)
NM_001080.3(ALDH5A1):c.118_130dup (p.Leu44fs)
NM_001080.3(ALDH5A1):c.123_127dup (p.Gln43fs) rs1273153948
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) rs1561879345
NM_001080.3(ALDH5A1):c.138_145del (p.Cys46fs)
NM_001080.3(ALDH5A1):c.1402+1G>A rs762290992
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001080.3(ALDH5A1):c.1402+2T>C
NM_001080.3(ALDH5A1):c.1506_1521dup (p.Lys508fs) rs1759979356
NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter) rs748170674
NM_001080.3(ALDH5A1):c.170dup (p.Leu58fs)
NM_001080.3(ALDH5A1):c.244_251del (p.Ala82fs)
NM_001080.3(ALDH5A1):c.307_308insA (p.Arg103fs) rs1764674805
NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter) rs985818920
NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter) rs1764675949
NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs) rs1397344379
NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter) rs2127379151
NM_001080.3(ALDH5A1):c.374_375insTGGTACAATTTAATGATAC (p.Arg125_Lys126insGlyThrIleTer)
NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs) rs2127382173
NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs) rs760542761
NM_001080.3(ALDH5A1):c.424del (p.Ile142fs)
NM_001080.3(ALDH5A1):c.438+1G>A
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs) rs755029414
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) rs1306678453
NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs) rs2127382929
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs) rs1759308366
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met)
NM_001080.3(ALDH5A1):c.762C>A (p.Tyr254Ter)
NM_001080.3(ALDH5A1):c.762del (p.Val253_Tyr254insTer)
NM_001080.3(ALDH5A1):c.765dup (p.Val256fs)
NM_001080.3(ALDH5A1):c.79del (p.Arg27fs)
NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter) rs2127385894
NM_001080.3(ALDH5A1):c.896_897del (p.Ser299fs) rs2127387279

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