ClinVar Miner

List of variants reported as uncertain significance for Childhood onset GLUT1 deficiency syndrome 2 by Genome-Nilou Lab

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser) rs138139624 0.00004
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln) rs892715050 0.00002
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser) rs796053245 0.00002
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu) rs754791604 0.00002
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro) rs748340730 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) rs766376173 0.00002
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile) rs920394412 0.00002
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met) rs749426767 0.00002
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723 0.00001
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met) rs764168088 0.00001
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His) rs201748668 0.00001
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn) rs774241047 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His) rs370031715 0.00001
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys) rs1333609390 0.00001
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu) rs774348625 0.00001
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala) rs781521534 0.00001
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala) rs987202561 0.00001
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr) rs1017082606 0.00001
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly) rs1050933017 0.00001
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys) rs1387203768 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu) rs1302959508 0.00001
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu) rs1205631854 0.00001
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met) rs746091725 0.00001
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr) rs1040371265 0.00001
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) rs755946345
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala) rs796053259
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met) rs796053260
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser) rs1027810691
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys) rs769722007
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) rs1570590876
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile) rs2124446216
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser) rs796053274
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile) rs1216296247
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg) rs572648977
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp) rs572648977
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr) rs2124445324
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val) rs796053246
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met) rs1570601100
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu) rs577667739
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met) rs760130033
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser) rs1085308009
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro) rs1570592942
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala) rs2124449385
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu) rs771352226
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg) rs2124449313
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val) rs2124449273
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys) rs1165759782
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp) rs1451575059
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del) rs1557645931
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val) rs80359822
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His) rs758919432
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His) rs1411827478
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly) rs1425773776
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met) rs780528770

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