ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844 0.00002
NM_152419.3(HGSNAT):c.372-2A>G rs483352896 0.00002
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928 0.00001
NM_152419.3(HGSNAT):c.234+1G>A rs483352908 0.00001
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896 0.00001
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282 0.00001
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) rs1804565177
NM_152419.3(HGSNAT):c.1378-1G>A rs1804617510
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880

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