ClinVar Miner

List of variants reported as pathogenic for autosomal ichthyosis syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000382.2(ALDH3A2):c.153+5_386-408delins19
NM_000382.3(ALDH3A2):c.1108-1G>C
NM_000382.3(ALDH3A2):c.1291_1292del (p.Lys431fs)
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.471+1G>C
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.710G>A (p.Cys237Tyr)
NM_000382.3(ALDH3A2):c.798+1del
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser) rs72547571
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter) rs137852845

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