ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type IV; Glycogen storage disease IV, classic hepatic

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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888 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.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.1823_1824del (p.His608fs) rs1175447973 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.42C>G (p.Tyr14Ter) rs1328296506 0.00001
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter) rs559653237 0.00001
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter) rs779475367 0.00001
NM_000158.4(GBE1):c.955C>T (p.His319Tyr) rs767100121 0.00001
NC_000003.11:g.(?_81539548)_(81699082_?)del
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81584486_?)del
NC_000003.11:g.(?_81584336)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81810678_?)del
NC_000003.11:g.(?_81627056)_(81810688_?)del
NC_000003.11:g.(?_81627066)_(81643184_?)del
NC_000003.11:g.(?_81627066)_(81754774_?)del
NC_000003.11:g.(?_81691922)_(81699082_?)del
NC_000003.11:g.(?_81691922)_(81754774_?)del
NC_000003.11:g.(?_81695533)_(81695643_?)del
NC_000003.11:g.(?_81810516)_(81810678_?)del
NC_000003.12:g.(?_81490387)_(81761537_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)del
NC_000003.12:g.(?_81499090)_(81761537_?)del
NC_000003.12:g.(?_81591027)_(81594033_?)del
NC_000003.12:g.(?_81642771)_(81643000_?)del
NC_000003.12:g.(?_81642771)_(81670963_?)del
NC_000003.12:g.(?_81646382)_(81670963_?)del
NC_000003.12:g.(?_81761375)_(81761517_?)del
NC_000003.12:g.81594024_81594025insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCCAGC
NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter) rs773381709
NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter) rs2106957076
NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
NM_000158.4(GBE1):c.1098_1099insGTGA (p.His367fs)
NM_000158.4(GBE1):c.1115del (p.Gly372fs)
NM_000158.4(GBE1):c.1126_1127insCGGGAGAAGTAGATTGAAGCCAGTTGATTAGGGTGCTTAGC (p.Asp376delinsAlaGlyGluValAspTer)
NM_000158.4(GBE1):c.1169del (p.Ala389_Leu390insTer)
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs) rs1703800818
NM_000158.4(GBE1):c.1281del (p.Gly429fs)
NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter) rs1703799803
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1343_1344del (p.Lys448fs) rs2106938660
NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)
NM_000158.4(GBE1):c.1373del (p.Gly458fs)
NM_000158.4(GBE1):c.1379del (p.Ile460fs)
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter) rs1703726090
NM_000158.4(GBE1):c.1403del (p.Arg468fs) rs2106938514
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.143+2T>C rs2107250439
NM_000158.4(GBE1):c.144-1G>C
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter) rs1703673227
NM_000158.4(GBE1):c.149del (p.Lys50fs) rs2107169014
NM_000158.4(GBE1):c.1538_1563del (p.Ile513fs)
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.1569del (p.Arg524fs)
NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)
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>G (p.Tyr560Ter)
NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.172_173del (p.Asn58fs)
NM_000158.4(GBE1):c.1743del (p.Asn581fs)
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter) rs201029706
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter) rs772802187
NM_000158.4(GBE1):c.1854del (p.Ala619fs)
NM_000158.4(GBE1):c.1861_1875CTT[2]TTCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTCATTTTC[1] (p.Asn626delinsPhePhePhePhePhePheXaaXaaXaaXaaCysTer) rs2106869587
NM_000158.4(GBE1):c.1961_1962del (p.Ala654fs) rs2106809957
NM_000158.4(GBE1):c.2011del (p.Ser671fs)
NM_000158.4(GBE1):c.202_203del (p.Lys68fs) rs1705761854
NM_000158.4(GBE1):c.216del (p.Tyr73fs) rs2107168870
NM_000158.4(GBE1):c.26del (p.Ala9fs)
NM_000158.4(GBE1):c.274del (p.Ala92fs)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.317del (p.Gly106fs) rs2107114812
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.348dup (p.Leu117fs)
NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)
NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter) rs774709930
NM_000158.4(GBE1):c.466_470del (p.Arg156fs) rs2107074878
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.608_609del (p.His203fs)
NM_000158.4(GBE1):c.646dup (p.Tyr216fs)
NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)
NM_000158.4(GBE1):c.691+1G>A
NM_000158.4(GBE1):c.691+1G>T
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.810_811delinsTT (p.Gln270_Glu271delinsHisTer) rs2107059792
NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs) rs2107059544
NM_000158.4(GBE1):c.966G>A (p.Trp322Ter) rs1559673456
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671

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