ClinVar Miner

List of variants reported as pathogenic for glycogen storage disease due to GLUT2 deficiency

Included ClinVar conditions (2):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744 0.00001
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter) rs771477447 0.00001
NM_000340.2(SLC2A2):c.775+1G>A rs756874949 0.00001
NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg) rs780067980 0.00001
NM_000340.2(SLC2A2):c.963+1G>A rs371977235 0.00001
NC_000003.11:g.(?_170727727)_(170727891_?)del
NC_000003.11:g.(?_170732238)_(170732540_?)del
NM_000340.2(SLC2A2):c.1020T>G (p.Tyr340Ter)
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) rs1553785722
NM_000340.2(SLC2A2):c.1051del (p.Val351fs) rs1715390589
NM_000340.2(SLC2A2):c.109-2A>G rs1576838294
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) rs121909747
NM_000340.2(SLC2A2):c.1170+1G>T rs1294679246
NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter) rs121909745
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu) rs28928874
NM_000340.2(SLC2A2):c.1280del (p.Phe427fs) rs1386374799
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs) rs1553784980
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter) rs1715182989
NM_000340.2(SLC2A2):c.137del (p.Leu46fs)
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)
NM_000340.2(SLC2A2):c.144del (p.Pro49fs) rs2108256953
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.2T>C (p.Met1Thr)
NM_000340.2(SLC2A2):c.2T>G (p.Met1Arg) rs1716716102
NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter) rs753980727
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del) rs763620441
NM_000340.2(SLC2A2):c.482dup (p.Gly162fs)
NM_000340.2(SLC2A2):c.497-2A>G rs1318756243
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.666_667del (p.Gly223fs)
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter) rs773581866
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
NM_000340.2(SLC2A2):c.775+1del
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter) rs121909746
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414
SLC2A2, 1-BP INS, 793C

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