ClinVar Miner

List of variants studied for Sanfilippo syndrome type A by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP
NM_000199.3(SGSH):c.1080delC (p.Val361Serfs) rs770947426
NM_000199.3(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.3(SGSH):c.663+17T>C rs6565647
NM_000199.3(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000199.4(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635

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