ClinVar Miner

List of variants in gene ALDH5A1 reported as pathogenic for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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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.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.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter) rs1421988285 0.00001
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr) rs953870735 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.1253del (p.Asn418fs)
NM_001080.3(ALDH5A1):c.1257C>A (p.Phe419Leu)
NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)
NM_001080.3(ALDH5A1):c.1294A>C (p.Met432Leu)
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs) rs1561879345
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser) rs750638943
NM_001080.3(ALDH5A1):c.1343+1G>A rs1561879380
NM_001080.3(ALDH5A1):c.1343+1G>T rs1561879380
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT rs875989801
NM_001080.3(ALDH5A1):c.1343+1del rs1561879386
NM_001080.3(ALDH5A1):c.1344-2del
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.1529C>T (p.Ser510Phe) rs578023593
NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter) rs748170674
NM_001080.3(ALDH5A1):c.1547G>A (p.Gly516Glu)
NM_001080.3(ALDH5A1):c.374_375insTGGTACAATTTAATGATAC (p.Arg125_Lys126insGlyThrIleTer)
NM_001080.3(ALDH5A1):c.375_378del (p.Lys126fs)
NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs) rs2127382173
NM_001080.3(ALDH5A1):c.380G>A (p.Trp127Ter)
NM_001080.3(ALDH5A1):c.412C>T (p.Leu138Phe)
NM_001080.3(ALDH5A1):c.416C>A (p.Ala139Asp)
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.455_456dup (p.Ala153fs)
NM_001080.3(ALDH5A1):c.461_474del (p.His154fs)
NM_001080.3(ALDH5A1):c.559C>G (p.Arg187Gly)
NM_001080.3(ALDH5A1):c.562del (p.Ala188fs)
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs) rs755029414
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
NM_001080.3(ALDH5A1):c.608C>G (p.Pro203Arg)
NM_001080.3(ALDH5A1):c.617del (p.Phe206fs)
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs) rs1306678453
NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs) rs2127382929
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
NM_001080.3(ALDH5A1):c.668G>A (p.Cys223Tyr) rs72552282
NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met)
NM_001080.3(ALDH5A1):c.727-3298G>A rs1561872640
NM_001080.3(ALDH5A1):c.728_736del (p.Leu243_Ser245del) rs2127385829
NM_001080.3(ALDH5A1):c.762C>G (p.Tyr254Ter)
NM_001080.3(ALDH5A1):c.762del (p.Val253_Tyr254insTer)
NM_001080.3(ALDH5A1):c.763A>G (p.Asn255Asp)
NM_001080.3(ALDH5A1):c.765dup (p.Val256fs)
NM_001080.3(ALDH5A1):c.768_784del (p.Ile257fs)
NM_001080.3(ALDH5A1):c.781C>T (p.Arg261Ter)
NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter) rs2127385894
NM_001080.3(ALDH5A1):c.870+1G>T
NM_001080.3(ALDH5A1):c.896_897del (p.Ser299fs) rs2127387279
NM_001080.3(ALDH5A1):c.901A>G (p.Lys301Glu)

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