ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease, type IV

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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 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.1544G>A (p.Arg515His) rs201958741 0.00005
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 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.1571G>A (p.Arg524Gln) rs80338673 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102 0.00002
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886 0.00002
NM_000158.4(GBE1):c.1064G>A (p.Arg355His) rs869312919 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.1604A>G (p.Tyr535Cys) rs886058900 0.00001
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp) rs1703086906 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.1803+2T>C rs539203557 0.00001
NM_000158.4(GBE1):c.1823_1824del (p.His608fs) rs1175447973 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.2052+2T>C rs375596642 0.00001
NM_000158.4(GBE1):c.563A>C (p.His188Pro) rs773558446 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_000158.4(GBE1):c.1000del (p.Ile334fs)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1109-1G>T
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1268dup (p.Ile424fs)
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.1344dup (p.Glu449fs)
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.144-1G>C
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
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.1612T>G (p.Phe538Val)
NM_000158.4(GBE1):c.1618+1G>A rs1703670302
NM_000158.4(GBE1):c.1666A>T (p.Asn556Tyr)
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs) rs1412857849
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.1799_1803+8del
NM_000158.4(GBE1):c.1804-2A>T rs1224090803
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1902del (p.Asp635fs)
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>T rs2106809795
NM_000158.4(GBE1):c.216del (p.Tyr73fs) rs2107168870
NM_000158.4(GBE1):c.26del (p.Ala9fs)
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter) rs2107114808
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter) rs773473771
NM_000158.4(GBE1):c.360_366del (p.Lys121fs)
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.556-2A>G
NM_000158.4(GBE1):c.691+1G>A
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.719del (p.Ile240fs)
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.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
NM_000158.4(GBE1):c.860_861dup (p.Val288fs)
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.956A>G (p.His319Arg) rs1490328834
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
NM_000158.4(GBE1):c.992+1G>T
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>T (p.Glu333Val) rs1553684545

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