ClinVar Miner

List of variants reported as uncertain significance for Sjogren-Larsson syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554 0.00421
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045 0.00058
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435 0.00030
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536 0.00020
NM_000382.3(ALDH3A2):c.978G>C (p.Lys326Asn) rs143717984 0.00016
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly) rs147200808 0.00015
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=) rs140649688 0.00014
NM_000382.3(ALDH3A2):c.1254T>C (p.Thr418=) rs373251784 0.00006
NM_000382.3(ALDH3A2):c.799-6A>G rs746519259 0.00006
NM_000382.3(ALDH3A2):c.87C>G (p.Ala29=) rs749679693 0.00005
NM_000382.3(ALDH3A2):c.1392C>T (p.Leu464=) rs181889379 0.00003
NM_000382.3(ALDH3A2):c.287A>G (p.Tyr96Cys) rs747913174 0.00003
NM_000382.3(ALDH3A2):c.957C>T (p.Thr319=) rs886052690 0.00003
NM_000382.3(ALDH3A2):c.1021C>G (p.Pro341Ala) rs140519419 0.00001
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.*377TG[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.1347T>C (p.Asp449=) rs1054840414
NM_000382.3(ALDH3A2):c.1431T>A (p.Ala477=) rs1320588121
NM_000382.3(ALDH3A2):c.1444-4C>T
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.303T>C (p.Pro101=) rs773093556
NM_000382.3(ALDH3A2):c.401T>C (p.Ile134Thr)
NM_000382.3(ALDH3A2):c.566T>C (p.Val189Ala)
NM_000382.3(ALDH3A2):c.680G>A (p.Arg227Lys)
NM_000382.3(ALDH3A2):c.786G>A (p.Lys262=) rs886052688
NM_000382.3(ALDH3A2):c.86C>T (p.Ala29Val)
NM_000382.3(ALDH3A2):c.918T>C (p.Thr306=)

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