ClinVar Miner

List of variants in gene ALDH3A2 reported as likely pathogenic for Sjogren-Larsson syndrome

Included ClinVar conditions (1):
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561 0.00006
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571 0.00003
NM_000382.3(ALDH3A2):c.1094C>T (p.Ser365Leu) rs72547573 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys) rs72547566 0.00002
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn) rs72547568 0.00002
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575 0.00001
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His) rs768290318 0.00001
NM_000382.3(ALDH3A2):c.798+1_798+6del rs1057517352 0.00001
NM_000382.2(ALDH3A2):c.154_155delAG rs1428029642
NM_000382.3(ALDH3A2):c.1000G>T (p.Gly334Ter)
NM_000382.3(ALDH3A2):c.1023_1026del (p.Val342fs)
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
NM_000382.3(ALDH3A2):c.1096del (p.His366fs)
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs)
NM_000382.3(ALDH3A2):c.1108-1G>A
NM_000382.3(ALDH3A2):c.1108-1G>T rs1036733598
NM_000382.3(ALDH3A2):c.1108-2A>G
NM_000382.3(ALDH3A2):c.1141G>T (p.Gly381Ter)
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.126del (p.Thr43fs)
NM_000382.3(ALDH3A2):c.1277T>G (p.Leu426Ter)
NM_000382.3(ALDH3A2):c.1302dup (p.Ala435fs)
NM_000382.3(ALDH3A2):c.1362dup (p.Leu455fs)
NM_000382.3(ALDH3A2):c.1367T>A (p.Leu456Ter)
NM_000382.3(ALDH3A2):c.1367del (p.Leu455_Leu456insTer)
NM_000382.3(ALDH3A2):c.1444-1G>T
NM_000382.3(ALDH3A2):c.151_152del (p.Lys51fs) rs1057517403
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.253_254del (p.Lys85fs)
NM_000382.3(ALDH3A2):c.257_259delinsCACTCAGC (p.Lys86fs)
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.281dup (p.Ala95fs)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.2T>A (p.Met1Lys)
NM_000382.3(ALDH3A2):c.341C>T (p.Pro114Leu)
NM_000382.3(ALDH3A2):c.364del (p.Pro121_Leu122insTer) rs2152326510
NM_000382.3(ALDH3A2):c.3G>A (p.Met1Ile)
NM_000382.3(ALDH3A2):c.3G>C (p.Met1Ile)
NM_000382.3(ALDH3A2):c.420_426del (p.Ser140fs)
NM_000382.3(ALDH3A2):c.464T>A (p.Leu155Ter)
NM_000382.3(ALDH3A2):c.471+1del rs786204741
NM_000382.3(ALDH3A2):c.471+2T>G
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.522_523del (p.Lys175fs)
NM_000382.3(ALDH3A2):c.571A>T (p.Lys191Ter)
NM_000382.3(ALDH3A2):c.574dup (p.Ile192fs) rs772967175
NM_000382.3(ALDH3A2):c.577del (p.Val193fs)
NM_000382.3(ALDH3A2):c.652A>T (p.Lys218Ter)
NM_000382.3(ALDH3A2):c.653_654del (p.Lys218fs)
NM_000382.3(ALDH3A2):c.680+1G>A
NM_000382.3(ALDH3A2):c.681-14T>A
NM_000382.3(ALDH3A2):c.681-1G>A
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr) rs72547567
NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)
NM_000382.3(ALDH3A2):c.73C>T (p.Gln25Ter) rs2152325575
NM_000382.3(ALDH3A2):c.760C>T (p.Gln254Ter)
NM_000382.3(ALDH3A2):c.769dup (p.Ile257fs)
NM_000382.3(ALDH3A2):c.776G>A (p.Trp259Ter)
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000382.3(ALDH3A2):c.784A>T (p.Lys262Ter)
NM_000382.3(ALDH3A2):c.798+1G>A
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)
NM_000382.3(ALDH3A2):c.824_825del (p.Glu275fs) rs1057516788
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.913G>T (p.Glu305Ter)
NM_000382.3(ALDH3A2):c.979del (p.Lys326_Val327insTer) rs779956047

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