ClinVar Miner

List of variants reported as likely pathogenic for autosomal ichthyosis syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000400.3(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly)
NM_207118.2(GTF2H5):c.36-2A>G rs765378190

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