ClinVar Miner

List of variants studied for Glycogen storage disease, type IV

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ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_000158.4(GBE1):c.-28G>T rs368460254 0.48974
NM_000158.4(GBE1):c.-57G>A rs2290081 0.38912
NM_000158.4(GBE1):c.*176G>A rs846 0.35837
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_000158.4(GBE1):c.-102C>T rs78982329 0.12619
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_000158.4(GBE1):c.*152C>A rs9820089 0.06146
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_000158.4(GBE1):c.*308C>T rs141214861 0.00757
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602 0.00116
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000158.4(GBE1):c.*468G>A rs750772386 0.00073
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000158.4(GBE1):c.*555G>A rs143820392 0.00068
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296 0.00063
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_000158.4(GBE1):c.1237-15C>T rs376809475 0.00039
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His) rs754607405 0.00035
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_000158.4(GBE1):c.*466G>A rs571158601 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644 0.00027
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000158.4(GBE1):c.313+15G>A rs184391304 0.00018
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136 0.00014
NM_000158.4(GBE1):c.429+5T>G rs373240805 0.00014
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_000158.4(GBE1):c.*226T>C rs748963117 0.00011
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308 0.00011
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305 0.00008
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285 0.00007
NM_000158.4(GBE1):c.467G>A (p.Arg156His) rs374404487 0.00007
NM_000158.4(GBE1):c.*460C>T rs771301034 0.00006
NM_000158.4(GBE1):c.*558T>C rs886058899 0.00006
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254 0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 0.00006
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys) rs571116428 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000158.4(GBE1):c.*598G>C rs886058898 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.1932G>A (p.Gly644=) rs544906178 0.00004
NM_000158.4(GBE1):c.23C>T (p.Ala8Val) rs759518868 0.00004
NM_000158.4(GBE1):c.70del (p.Asp24fs) rs1407149518 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000158.4(GBE1):c.*395A>G rs138608612 0.00003
NM_000158.4(GBE1):c.143+8C>G rs750447886 0.00003
NM_000158.4(GBE1):c.1460A>G (p.Asp487Gly) rs747404758 0.00003
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys) rs774709930 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala) rs757297254 0.00002
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000158.4(GBE1):c.*545G>C rs548648836 0.00001
NM_000158.4(GBE1):c.-6C>G rs1197683058 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 0.00001
NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser) rs1703871141 0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg) rs771405370 0.00001
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480 0.00001
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter) rs781198373 0.00001
NM_000158.4(GBE1):c.1335+9C>G rs754084067 0.00001
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu) rs758786811 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894 0.00001
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln) rs774619760 0.00001
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn) rs775980435 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1810G>A (p.Val604Met) rs760015364 0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs) rs1175447973 0.00001
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302 0.00001
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518 0.00001
NM_000158.4(GBE1):c.203A>T (p.Lys68Met) rs779371387 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn) rs1209123501 0.00001
NM_000158.4(GBE1):c.2103G>A (p.Pro701=) rs775617188 0.00001
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser) rs755590449 0.00001
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys) rs763302311 0.00001
NM_000158.4(GBE1):c.476C>T (p.Pro159Leu) rs1559676007 0.00001
NM_000158.4(GBE1):c.563A>C (p.His188Pro) rs773558446 0.00001
NM_000158.4(GBE1):c.692-6A>G rs757655010 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.993-1G>T rs763016962 0.00001
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
NM_000158.3(GBE1):c.-195G>T rs886058904
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
NM_000158.4(GBE1):c.*12T>C
NM_000158.4(GBE1):c.*388T>A rs1702416693
NM_000158.4(GBE1):c.*44T>A rs1702420526
NM_000158.4(GBE1):c.*494A>C rs145934828
NM_000158.4(GBE1):c.*494A>T rs145934828
NM_000158.4(GBE1):c.*523T>A rs113749146
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000158.4(GBE1):c.-35dup rs11391701
NM_000158.4(GBE1):c.-4G>A rs1283709127
NM_000158.4(GBE1):c.1000del (p.Ile334fs)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly) rs1703917500
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn) rs1434653319
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala) rs771241994
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr) rs772670028
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter) rs773775991
NM_000158.4(GBE1):c.1601G>T (p.Gly534Val) rs2106933621
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)
NM_000158.4(GBE1):c.1618+1G>A rs1703670302
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1656A>C (p.Pro552=) rs1340229013
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile) rs1703085718
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1799_1803+8del
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1804-6T>G rs753097564
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1842T>A (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del) rs1576137368
NM_000158.4(GBE1):c.1934+1A>G
NM_000158.4(GBE1):c.1934+2T>C
NM_000158.4(GBE1):c.1935-1C>A
NM_000158.4(GBE1):c.1935-1C>T rs1475447884
NM_000158.4(GBE1):c.2052+1G>A rs2106809795
NM_000158.4(GBE1):c.2052+1G>T rs2106809795
NM_000158.4(GBE1):c.2053-3372del rs34052684
NM_000158.4(GBE1):c.2053-3382dup rs34052684
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr) rs1337608522
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) rs773473771
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000158.4(GBE1):c.430-1G>C
NM_000158.4(GBE1):c.47del (p.Ala16fs) rs2107250805
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter) rs776943352
NM_000158.4(GBE1):c.505del (p.Asp169fs) rs1370223073
NM_000158.4(GBE1):c.556-2A>G
NM_000158.4(GBE1):c.610G>T (p.Val204Leu) rs2107072252
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) rs886058901
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser) rs1350258947
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.733T>C (p.Tyr245His) rs2107066005
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)
NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)
NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly) rs1576183525
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
NM_000158.4(GBE1):c.906G>A (p.Met302Ile) rs1309818317
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu) rs1253319926
NM_000158.4(GBE1):c.956A>G (p.His319Arg) rs1490328834
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000158.4(GBE1):c.993-1dup
NM_000158.4(GBE1):c.993-2A>G
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly) rs1553684545
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
c.[708G>C]+[784C>T]
c.[c.38dupA]+[1571G>A]

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