ClinVar Miner

List of variants reported as likely pathogenic for Sanfilippo syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211

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