ClinVar Miner

List of variants studied for Sanfilippo syndrome

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_002076.4(GNS):c.*3068_*3069dup rs397946778 0.04705
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03695
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538 0.00279
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_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
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_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_152419.2(HGSNAT):c.-37C>T rs886062951 0.00033
NM_002076.4(GNS):c.468C>T (p.Ala156=) rs147780685 0.00031
NM_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000199.4(SGSH):c.-23C>T rs533566888 0.00014
NM_152419.3(HGSNAT):c.493+1G>A rs193066451 0.00013
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637 0.00011
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
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.30G>A (p.Arg10=) rs753033310 0.00006
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
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_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864 0.00004
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) rs755021062 0.00003
NM_002076.4(GNS):c.1308+2T>C rs750645480 0.00003
NM_002076.4(GNS):c.676T>G (p.Phe226Val) rs1283873163 0.00003
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211 0.00003
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser) rs771940326 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
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_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000263.3(NAGLU):c.-228C>G rs554915381 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 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_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 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
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
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.*2611dup rs201933913
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.132C>G (p.Thr44=) rs1592514574
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.625-2A>G rs2136247666
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
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
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
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter) rs1554533211

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