ClinVar Miner

List of variants reported as benign for Sanfilippo syndrome type A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.664-36T>C rs35087113
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362

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