ClinVar Miner

List of variants reported as likely pathogenic for autosomal ichthyosis syndrome by Hadassah Hebrew University Medical Center

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.777G>A (p.Trp259Ter)
NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter) rs1584203922
NM_001283.5(AP1S1):c.364del (p.Asp122fs) rs767358930
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906

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