ClinVar Miner

List of variants reported as likely benign for Sanfilippo syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_002076.4(GNS):c.*3068_*3069dup rs397946778 0.04705
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_002076.4(GNS):c.*2611dup rs201933913

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