ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs) rs1596358564
NM_022067.4(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) rs1594910243

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