ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 154
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.40G>C (p.Val14Leu) rs376500233 0.00014
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys) rs368139032 0.00007
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys) rs766214522 0.00006
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln) rs761601513 0.00004
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu) rs201148460 0.00004
NM_000404.4(GLB1):c.1910C>T (p.Thr637Met) rs369133124 0.00004
NM_000404.4(GLB1):c.235G>A (p.Ala79Thr) rs553660803 0.00004
NM_000404.4(GLB1):c.75+3A>G rs369627064 0.00004
NM_000404.4(GLB1):c.1915G>A (p.Val639Met) rs1222326938 0.00003
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr) rs772539129 0.00003
NM_000404.4(GLB1):c.1143+3A>C rs759517360 0.00002
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly) rs767685019 0.00002
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys) rs748853764 0.00002
NM_000404.4(GLB1):c.1202T>C (p.Leu401Pro) rs1301956348 0.00001
NM_000404.4(GLB1):c.1202T>G (p.Leu401Arg) rs1301956348 0.00001
NM_000404.4(GLB1):c.1241G>A (p.Gly414Glu) rs1399147380 0.00001
NM_000404.4(GLB1):c.1261A>G (p.Thr421Ala) rs779877504 0.00001
NM_000404.4(GLB1):c.1643T>A (p.Leu548His) rs1335107953 0.00001
NM_000404.4(GLB1):c.1753G>A (p.Gly585Ser) rs1291361971 0.00001
NM_000404.4(GLB1):c.1852G>A (p.Val618Met) rs1375909576 0.00001
NM_000404.4(GLB1):c.1873C>T (p.Pro625Ser) rs755581184 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 0.00001
NM_000404.4(GLB1):c.2009A>G (p.Lys670Arg) rs764348340 0.00001
NM_000404.4(GLB1):c.20G>C (p.Arg7Pro) rs1484753571 0.00001
NM_000404.4(GLB1):c.295T>A (p.Ser99Thr) rs968429427 0.00001
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr) rs1416369501 0.00001
NM_000404.4(GLB1):c.524A>G (p.Gln175Arg) rs367692210 0.00001
NM_000404.4(GLB1):c.703G>A (p.Gly235Ser) rs766019573 0.00001
NM_000404.4(GLB1):c.836A>G (p.Gln279Arg) rs1185364016 0.00001
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe) rs1261599031 0.00001
NM_000404.4(GLB1):c.850A>G (p.Ile284Val) rs746547573 0.00001
NM_000404.4(GLB1):c.884A>G (p.Asp295Gly) rs76016860 0.00001
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp) rs1284882385 0.00001
NC_000003.12:g.33097285A>C
NM_000404.4(GLB1):c.1018G>A (p.Ala340Thr)
NM_000404.4(GLB1):c.1026C>A (p.Asp342Glu) rs2125514060
NM_000404.4(GLB1):c.1030A>G (p.Thr344Ala)
NM_000404.4(GLB1):c.1068+4G>A
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.1079T>C (p.Val360Ala)
NM_000404.4(GLB1):c.1084G>A (p.Glu362Lys)
NM_000404.4(GLB1):c.1088G>A (p.Gly363Asp) rs189503132
NM_000404.4(GLB1):c.1095C>G (p.Ile365Met)
NM_000404.4(GLB1):c.1120T>C (p.Tyr374His)
NM_000404.4(GLB1):c.1121A>T (p.Tyr374Phe)
NM_000404.4(GLB1):c.113G>A (p.Arg38Gln)
NM_000404.4(GLB1):c.1184C>T (p.Ser395Phe)
NM_000404.4(GLB1):c.1198A>C (p.Ser400Arg)
NM_000404.4(GLB1):c.119C>T (p.Ser40Phe)
NM_000404.4(GLB1):c.1201C>A (p.Leu401Ile) rs1402467081
NM_000404.4(GLB1):c.1223A>G (p.Gln408Arg) rs72555369
NM_000404.4(GLB1):c.1228A>C (p.Lys410Gln)
NM_000404.4(GLB1):c.1232A>C (p.Gln411Pro)
NM_000404.4(GLB1):c.1233+15G>A
NM_000404.4(GLB1):c.1234-3C>A
NM_000404.4(GLB1):c.1273G>C (p.Asp425His)
NM_000404.4(GLB1):c.1279A>G (p.Ser427Gly)
NM_000404.4(GLB1):c.1306C>G (p.Leu436Val) rs34421970
NM_000404.4(GLB1):c.1333G>A (p.Val445Ile)
NM_000404.4(GLB1):c.1351C>T (p.Pro451Ser) rs267599772
NM_000404.4(GLB1):c.1360G>A (p.Val454Ile) rs1398424263
NM_000404.4(GLB1):c.1370_1372dup (p.Arg457dup) rs2125467100
NM_000404.4(GLB1):c.1375_1377del (p.Asn459del)
NM_000404.4(GLB1):c.137_138delinsCC (p.Gln46Pro)
NM_000404.4(GLB1):c.1384A>G (p.Thr462Ala)
NM_000404.4(GLB1):c.1423C>T (p.Leu475Phe)
NM_000404.4(GLB1):c.1426C>G (p.Leu476Val) rs113534264
NM_000404.4(GLB1):c.1437C>A (p.Asn479Lys)
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
NM_000404.4(GLB1):c.1505G>A (p.Ser502Asn)
NM_000404.4(GLB1):c.1508C>A (p.Ser503Tyr)
NM_000404.4(GLB1):c.1516C>A (p.Leu506Ile)
NM_000404.4(GLB1):c.1520C>T (p.Thr507Met)
NM_000404.4(GLB1):c.1537C>T (p.Pro513Ser)
NM_000404.4(GLB1):c.1556C>T (p.Ala519Val) rs2125463380
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
NM_000404.4(GLB1):c.1585C>T (p.His529Tyr)
NM_000404.4(GLB1):c.1612G>A (p.Ala538Thr)
NM_000404.4(GLB1):c.1616G>C (p.Trp539Ser)
NM_000404.4(GLB1):c.1640C>T (p.Thr547Met)
NM_000404.4(GLB1):c.1672A>G (p.Ile558Val)
NM_000404.4(GLB1):c.168C>G (p.His56Gln) rs745385633
NM_000404.4(GLB1):c.1724_1725delinsTG (p.Gly575Val)
NM_000404.4(GLB1):c.1734+4C>T
NM_000404.4(GLB1):c.173C>T (p.Ser58Phe) rs1302203983
NM_000404.4(GLB1):c.1748T>G (p.Ile583Ser)
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln) rs199694629
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp) rs1696348575
NM_000404.4(GLB1):c.1810C>G (p.Pro604Ala)
NM_000404.4(GLB1):c.184C>T (p.Arg62Cys)
NM_000404.4(GLB1):c.1855C>A (p.Leu619Met)
NM_000404.4(GLB1):c.1897C>G (p.Leu633Val)
NM_000404.4(GLB1):c.189C>G (p.Phe63Leu)
NM_000404.4(GLB1):c.1903G>T (p.Ala635Ser)
NM_000404.4(GLB1):c.1951G>A (p.Asp651Asn)
NM_000404.4(GLB1):c.1969G>A (p.Val657Ile)
NM_000404.4(GLB1):c.1979G>A (p.Arg660Lys)
NM_000404.4(GLB1):c.1981C>T (p.Leu661Phe)
NM_000404.4(GLB1):c.1990C>T (p.Pro664Ser)
NM_000404.4(GLB1):c.1997C>T (p.Pro666Leu) rs754538192
NM_000404.4(GLB1):c.2006del (p.Asn669fs) rs759633494
NM_000404.4(GLB1):c.2008A>G (p.Lys670Glu) rs2125442597
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)
NM_000404.4(GLB1):c.209T>C (p.Leu70Pro)
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg) rs776889510
NM_000404.4(GLB1):c.245+3A>G
NM_000404.4(GLB1):c.245+6T>C
NM_000404.4(GLB1):c.246-16GT[2]
NM_000404.4(GLB1):c.262T>C (p.Phe88Leu)
NM_000404.4(GLB1):c.268G>C (p.Glu90Gln)
NM_000404.4(GLB1):c.278C>A (p.Pro93Gln)
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu) rs1430354883
NM_000404.4(GLB1):c.326G>A (p.Arg109Gln)
NM_000404.4(GLB1):c.331G>A (p.Ala111Thr)
NM_000404.4(GLB1):c.357C>G (p.Ile119Met)
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.399A>G (p.Gly133=)
NM_000404.4(GLB1):c.454C>A (p.Pro152Thr)
NM_000404.4(GLB1):c.457+3A>G
NM_000404.4(GLB1):c.467C>T (p.Ala156Val)
NM_000404.4(GLB1):c.4C>G (p.Pro2Ala) rs772539129
NM_000404.4(GLB1):c.581C>T (p.Ala194Val)
NM_000404.4(GLB1):c.586G>C (p.Asp196His) rs2125533137
NM_000404.4(GLB1):c.592G>C (p.Asp198His)
NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)
NM_000404.4(GLB1):c.617G>A (p.Arg206His)
NM_000404.4(GLB1):c.623G>T (p.Arg208Leu)
NM_000404.4(GLB1):c.625C>T (p.His209Tyr) rs1699296800
NM_000404.4(GLB1):c.62C>T (p.Thr21Met)
NM_000404.4(GLB1):c.668C>G (p.Ala223Gly)
NM_000404.4(GLB1):c.670C>G (p.His224Asp)
NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)
NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)
NM_000404.4(GLB1):c.697C>A (p.Leu233Met)
NM_000404.4(GLB1):c.712A>G (p.Thr238Ala) rs750237687
NM_000404.4(GLB1):c.751G>A (p.Ala251Thr) rs1423200446
NM_000404.4(GLB1):c.779C>A (p.Pro260His) rs2125525594
NM_000404.4(GLB1):c.77A>G (p.Asn26Ser)
NM_000404.4(GLB1):c.806T>C (p.Phe269Ser)
NM_000404.4(GLB1):c.837A>C (p.Gln279His)
NM_000404.4(GLB1):c.838C>G (p.Pro280Ala)
NM_000404.4(GLB1):c.838C>T (p.Pro280Ser)
NM_000404.4(GLB1):c.87G>T (p.Gln29His)
NM_000404.4(GLB1):c.895C>T (p.Arg299Cys)
NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)
NM_000404.4(GLB1):c.905G>C (p.Ser302Thr)
NM_000404.4(GLB1):c.905G>T (p.Ser302Ile) rs2125523018
NM_000404.4(GLB1):c.911A>G (p.Asn304Ser)
NM_000404.4(GLB1):c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT
NM_000404.4(GLB1):c.914+5G>A
NM_000404.4(GLB1):c.915G>C (p.Leu305Phe)
NM_000404.4(GLB1):c.956G>A (p.Gly319Glu) rs2125514180
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala) rs1575445193

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.