ClinVar Miner

List of variants in gene SGSH studied for Sanfilippo syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690 0.00009
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.89-18_89-15del rs768357480

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