ClinVar Miner

List of variants in gene GNS studied for Sanfilippo syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
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_002076.4(GNS):c.*3068_*3069dup rs397946778 0.04705
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03695
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_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_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 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_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
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_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.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_002076.4(GNS):c.1618G>A (p.Gly540Ser) rs771940326 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
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_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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.