ClinVar Miner

List of variants reported as uncertain significance for Sanfilippo syndrome

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Total variants: 45
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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_002076.4(GNS):c.876-3C>T rs73323465 0.00045
NM_002076.4(GNS):c.117G>T (p.Gly39=) rs371407400 0.00043
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_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
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.624+10A>G rs757526895 0.00009
NM_002076.4(GNS):c.*3dup rs766104697 0.00008
NM_002076.4(GNS):c.462C>T (p.Tyr154=) rs139536679 0.00008
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_002076.4(GNS):c.*319C>T rs368523842 0.00004
NM_002076.4(GNS):c.688G>A (p.Ala230Thr) rs140270805 0.00004
NM_002076.4(GNS):c.77T>C (p.Leu26Pro) rs899951878 0.00004
NM_002076.4(GNS):c.793-9A>G rs780164582 0.00004
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys) rs888774422 0.00004
NM_002076.4(GNS):c.676T>G (p.Phe226Val) rs1283873163 0.00003
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser) rs771940326 0.00002
NM_000263.3(NAGLU):c.-228C>G rs554915381 0.00001
NM_002076.3(GNS):c.-161T>C rs769119181 0.00001
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser) rs756633427 0.00001
NM_002076.4(GNS):c.1262G>A (p.Arg421His) rs774084161 0.00001
NM_002076.4(GNS):c.1452C>T (p.Asp484=) rs1252524521 0.00001
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052 0.00001
NM_002076.4(GNS):c.160A>G (p.Thr54Ala) rs768291103 0.00001
NM_002076.4(GNS):c.682A>G (p.Met228Val) rs1338194520 0.00001
NM_002076.4(GNS):c.850T>C (p.Phe284Leu) rs978501400 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_002076.4(GNS):c.1309-9T>C rs1869033080
NM_002076.4(GNS):c.698C>T (p.Ala233Val) rs766044815
NM_152419.3(HGSNAT):c.*1100_*1103del rs886062959
NM_152419.3(HGSNAT):c.*3044dup rs886062965

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