ClinVar Miner

List of variants reported as likely pathogenic for autosomal ichthyosis syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_018668.4(VPS33B):c.498G>C (p.Leu166=) rs1555459218
NM_022067.4(VIPAS39):c.677A>G (p.His226Arg) rs1555366438

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