ClinVar Miner

List of variants reported as likely pathogenic for autosomal ichthyosis syndrome by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000382.3(ALDH3A2):c.10G>T (p.Glu4Ter)
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560
NM_016006.6(ABHD5):c.836del (p.Gln279fs)
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)

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