ClinVar Miner

List of variants in gene PHYH 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: 4
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NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.414+2T>C rs1554784939
NM_006214.4(PHYH):c.766_767del (p.Val256fs) rs797045100
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178

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