ClinVar Miner

List of variants in gene ALDH3A2 reported as uncertain significance for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.*1030G>T
NM_000382.3(ALDH3A2):c.*1082G>A
NM_000382.3(ALDH3A2):c.*1184A>G
NM_000382.3(ALDH3A2):c.*1258A>C
NM_000382.3(ALDH3A2):c.*1314T>C
NM_000382.3(ALDH3A2):c.*1452C>G
NM_000382.3(ALDH3A2):c.*1600C>G
NM_000382.3(ALDH3A2):c.*1628A>G
NM_000382.3(ALDH3A2):c.*1656C>T
NM_000382.3(ALDH3A2):c.*171A>G
NM_000382.3(ALDH3A2):c.*1721C>T
NM_000382.3(ALDH3A2):c.*1788C>G
NM_000382.3(ALDH3A2):c.*1900A>G
NM_000382.3(ALDH3A2):c.*1930C>T
NM_000382.3(ALDH3A2):c.*1938G>A
NM_000382.3(ALDH3A2):c.*1971A>G
NM_000382.3(ALDH3A2):c.*330T>C
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.*630G>A
NM_000382.3(ALDH3A2):c.*636T>C
NM_000382.3(ALDH3A2):c.*669del
NM_000382.3(ALDH3A2):c.*699A>G
NM_000382.3(ALDH3A2):c.*700G>T
NM_000382.3(ALDH3A2):c.*730T>A
NM_000382.3(ALDH3A2):c.*740G>C
NM_000382.3(ALDH3A2):c.-11A>G
NM_000382.3(ALDH3A2):c.-215C>T
NM_000382.3(ALDH3A2):c.-3G>A
NM_000382.3(ALDH3A2):c.-67C>T
NM_000382.3(ALDH3A2):c.-97G>A
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807
NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=)
NM_000382.3(ALDH3A2):c.1313dup (p.Arg439fs)
NM_000382.3(ALDH3A2):c.1347T>C (p.Asp449=)
NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=)
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045
NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=)
NM_000382.3(ALDH3A2):c.1443+1273_1443+1275delinsGG
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.255GAA[1] (p.Lys86del)
NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys)
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=)
NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=) rs201390270
NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)
NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=) rs1555532936
NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.605C>A (p.Thr202Asn)
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.683G>A (p.Arg228His) rs866392702
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=)
NM_000382.3(ALDH3A2):c.799-6A>G
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) rs886052690
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn)
NM_000382.3(ALDH3A2):c.984G>A (p.Met328Ile)
NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808

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