ClinVar Miner

List of variants in gene AP1S1 reported as likely pathogenic for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter) rs1584203922
NM_001283.5(AP1S1):c.364del (p.Asp122fs) rs767358930

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