ClinVar Miner

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

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ClinVar version:
Total variants: 148
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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_001039770.3(TMPPE):c.-398A>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.1071T>G (p.Phe357Leu) rs727503953
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.1348-3C>G rs1697255114
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.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.1784G>A (p.Arg595Gln) rs199694629
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp) rs1696348575
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.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.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

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