ClinVar Miner

List of variants reported as pathogenic for Sanfilippo syndrome type A by Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000199.3(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.3(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.4(SGSH):c.1297C>T (p.Arg433Trp) rs777267343

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