ClinVar Miner

List of variants in gene CASP14 studied for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012114.3(CASP14):c.328G>A (p.Glu110Lys) rs140739098 0.00006
NM_012114.3(CASP14):c.332C>T (p.Ala111Val) rs868415794
NM_012114.3(CASP14):c.462_463del (p.Asp154fs) rs769277893

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