ClinVar Miner

List of variants reported as pathogenic for Sandhoff disease by Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533

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