ClinVar Miner

List of variants in gene ALDH3A2 studied for Sjogren-Larsson syndrome

Included ClinVar conditions (1):
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Total variants: 115
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HGVS dbSNP
NM_000382.2(ALDH3A2):c.1443+1222delG
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
NM_000382.2(ALDH3A2):c.154_155delAG (p.Ser52Terfs)
NM_000382.2(ALDH3A2):c.471+1delG
NM_000382.2(ALDH3A2):c.798+1delG
NM_000382.2(ALDH3A2):c.[733G>A;901G>C;906delT;909T>G]
NM_000382.3(ALDH3A2):c.*1030G>T
NM_000382.3(ALDH3A2):c.*1256C>G
NM_000382.3(ALDH3A2):c.*1258A>C
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1462G>A
NM_000382.3(ALDH3A2):c.*1600C>G
NM_000382.3(ALDH3A2):c.*1609A>G
NM_000382.3(ALDH3A2):c.*1788C>G
NM_000382.3(ALDH3A2):c.*1802A>G
NM_000382.3(ALDH3A2):c.*1877_*1878CA[1]
NM_000382.3(ALDH3A2):c.*1900A>G
NM_000382.3(ALDH3A2):c.*1938G>A
NM_000382.3(ALDH3A2):c.*1971A>G
NM_000382.3(ALDH3A2):c.*292G>T
NM_000382.3(ALDH3A2):c.*330T>C
NM_000382.3(ALDH3A2):c.*36G>A
NM_000382.3(ALDH3A2):c.*377_*378TG[2]
NM_000382.3(ALDH3A2):c.*378G>A
NM_000382.3(ALDH3A2):c.*439G>C
NM_000382.3(ALDH3A2):c.*636T>C
NM_000382.3(ALDH3A2):c.*669del
NM_000382.3(ALDH3A2):c.*694C>T
NM_000382.3(ALDH3A2):c.*700G>T
NM_000382.3(ALDH3A2):c.*973T>C
NM_000382.3(ALDH3A2):c.-149C>G
NM_000382.3(ALDH3A2):c.-154G>A
NM_000382.3(ALDH3A2):c.-3G>A
NM_000382.3(ALDH3A2):c.-97G>A
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419
NM_000382.3(ALDH3A2):c.103C>T (p.Gln35Ter)
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu)
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>C
NM_000382.3(ALDH3A2):c.1108-1G>T
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)
NM_000382.3(ALDH3A2):c.1207+1G>A
NM_000382.3(ALDH3A2):c.1212del (p.Ser405fs)
NM_000382.3(ALDH3A2):c.1258dup (p.Ser420fs)
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
NM_000382.3(ALDH3A2):c.1293_1294GA[2] (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs) rs387906257
NM_000382.3(ALDH3A2):c.1309A>T (p.Lys437Ter) rs1567607328
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1443+1G>A
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=) rs7216
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs)
NM_000382.3(ALDH3A2):c.153+2T>G
NM_000382.3(ALDH3A2):c.1A>G (p.Met1Val)
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
NM_000382.3(ALDH3A2):c.231del (p.Glu77fs)
NM_000382.3(ALDH3A2):c.234G>A (p.Trp78Ter)
NM_000382.3(ALDH3A2):c.255_257GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer)
NM_000382.3(ALDH3A2):c.371_373del (p.Gly124del)
NM_000382.3(ALDH3A2):c.386-6A>G rs117330764
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.521del (p.Leu174fs)
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.631A>G (p.Lys211Glu)
NM_000382.3(ALDH3A2):c.641G>A (p.Cys214Tyr)
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter)
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=)
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+1_798+6del
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.798G>C (p.Lys266Asn) rs72547569
NM_000382.3(ALDH3A2):c.809del (p.Gly270fs)
NM_000382.3(ALDH3A2):c.822_823AG[1] (p.Glu275fs)
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000382.3(ALDH3A2):c.941_943delinsGGGCTAAAAGTACTGTTGGGG (p.Ala314_Pro315delinsGlyAlaLysSerThrValGlyAla)
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer)
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988_990GAA[1] (p.Glu331del)

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