ClinVar Miner

List of variants reported as uncertain significance for Sanfilippo syndrome by Illumina Laboratory Services, Illumina

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000263.3(NAGLU):c.-144G>A rs538885425 0.00263
NM_000263.3(NAGLU):c.-81C>T rs189515084 0.00202
NM_000263.3(NAGLU):c.-167G>T rs145830042 0.00078
NM_000263.3(NAGLU):c.-212G>C rs538288877 0.00063
NM_002076.4(GNS):c.*1861del rs3832839 0.00061
NM_000263.3(NAGLU):c.-271A>G rs369458319 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_000263.3(NAGLU):c.-275T>C rs567758523 0.00033
NM_152419.2(HGSNAT):c.-37C>T rs886062951 0.00033
NM_000199.4(SGSH):c.-23C>T rs533566888 0.00014
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690 0.00009
NM_002076.4(GNS):c.*319C>T rs368523842 0.00004
NM_000263.3(NAGLU):c.-228C>G rs554915381 0.00001
NM_002076.3(GNS):c.-161T>C rs769119181 0.00001
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000263.3(NAGLU):c.-78C>G rs886052951
NM_000263.3(NAGLU):c.-82T>C rs886052950
NM_000263.4(NAGLU):c.*198del rs747726415
NM_002076.3(GNS):c.-168dupC rs145477737
NM_002076.4(GNS):c.*2787del rs886049760
NM_002076.4(GNS):c.-39TCCCG[4] rs559286032
NM_152419.3(HGSNAT):c.*1100_*1103del rs886062959
NM_152419.3(HGSNAT):c.*3044dup rs886062965

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