ClinVar Miner

List of variants in gene GYG1 reported as uncertain significance for Glycogen storage disease XV; Polyglucosan body myopathy type 2

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) rs112622137 0.00041
NM_004130.4(GYG1):c.601T>G (p.Phe201Val) rs142318183 0.00016
NM_004130.4(GYG1):c.284A>G (p.Tyr95Cys) rs139797816 0.00013
NM_004130.4(GYG1):c.883G>C (p.Asp295His) rs202085215 0.00013
NM_004130.4(GYG1):c.961C>T (p.Arg321Trp) rs138596591 0.00013
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro) rs746892694 0.00009
NM_004130.4(GYG1):c.610T>C (p.Phe204Leu) rs567161281 0.00008
NM_004130.4(GYG1):c.130T>C (p.Ser44Pro) rs527407055 0.00006
NM_004130.4(GYG1):c.175A>G (p.Ile59Val) rs535548906 0.00006
NM_004130.4(GYG1):c.67G>C (p.Gly23Arg) rs148083274 0.00006
NM_004130.4(GYG1):c.683C>T (p.Thr228Ile) rs201672568 0.00006
NM_004130.4(GYG1):c.700G>A (p.Glu234Lys) rs372805607 0.00006
NM_004130.4(GYG1):c.551C>T (p.Pro184Leu) rs746196371 0.00005
NM_004130.4(GYG1):c.1009T>A (p.Ser337Thr) rs542123045 0.00004
NM_004130.4(GYG1):c.614G>T (p.Gly205Val) rs763516254 0.00004
NM_004130.4(GYG1):c.928G>C (p.Ala310Pro) rs1363436975 0.00004
NM_004130.4(GYG1):c.716A>C (p.Asn239Thr) rs759134229 0.00003
NM_004130.4(GYG1):c.755T>C (p.Ile252Thr) rs552267180 0.00002
NM_004130.4(GYG1):c.1040C>A (p.Thr347Asn) rs533834445 0.00001
NM_004130.4(GYG1):c.109G>A (p.Val37Met) rs913039791 0.00001
NM_004130.4(GYG1):c.124C>A (p.Gln42Lys) rs1330476252 0.00001
NM_004130.4(GYG1):c.171A>T (p.Glu57Asp) rs1477619940 0.00001
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys) rs1483682431 0.00001
NM_004130.4(GYG1):c.220T>G (p.Leu74Val) rs1398931853 0.00001
NM_004130.4(GYG1):c.403G>A (p.Gly135Arg) rs566956486 0.00001
NM_004130.4(GYG1):c.55G>T (p.Ala19Ser) rs148954947 0.00001
NM_004130.4(GYG1):c.609-19A>G rs748162789 0.00001
NM_004130.4(GYG1):c.61G>A (p.Val21Ile) rs1372925900 0.00001
NM_004130.4(GYG1):c.66G>A (p.Leu22=) rs1234846583 0.00001
NM_004130.4(GYG1):c.809C>T (p.Thr270Ile) rs1198924627 0.00001
NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe) rs1211466583 0.00001
NM_004130.4(GYG1):c.828+5G>A rs200878347 0.00001
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe) rs75284499 0.00001
NM_004130.4(GYG1):c.878A>G (p.Lys293Arg) rs975170441 0.00001
NM_004130.4(GYG1):c.926C>T (p.Pro309Leu) rs1014772125 0.00001
NM_004130.4(GYG1):c.1016ACA[1] (p.Asn340del) rs1368197366
NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala) rs759064665
NM_004130.4(GYG1):c.112C>T (p.Leu38Phe)
NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)
NM_004130.4(GYG1):c.143+3G>T
NM_004130.4(GYG1):c.160G>T (p.Val54Phe)
NM_004130.4(GYG1):c.179T>C (p.Met60Thr) rs2107886926
NM_004130.4(GYG1):c.203A>G (p.Asp68Gly) rs1712787449
NM_004130.4(GYG1):c.248C>G (p.Thr83Arg) rs267606858
NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)
NM_004130.4(GYG1):c.25C>G (p.Leu9Val) rs111907916
NM_004130.4(GYG1):c.272C>T (p.Ser91Leu)
NM_004130.4(GYG1):c.318+6T>A
NM_004130.4(GYG1):c.332T>C (p.Ile111Thr)
NM_004130.4(GYG1):c.337G>C (p.Asp113His) rs968503138
NM_004130.4(GYG1):c.339T>A (p.Asp113Glu) rs781200988
NM_004130.4(GYG1):c.36C>G (p.Asn12Lys) rs761710847
NM_004130.4(GYG1):c.370C>T (p.Pro124Ser) rs1712821278
NM_004130.4(GYG1):c.425C>T (p.Ser142Leu) rs1576538459
NM_004130.4(GYG1):c.440A>G (p.Asn147Ser)
NM_004130.4(GYG1):c.442C>A (p.Gln148Lys)
NM_004130.4(GYG1):c.452A>G (p.His151Arg) rs35054019
NM_004130.4(GYG1):c.482G>A (p.Gly161Asp)
NM_004130.4(GYG1):c.487G>A (p.Asp163Asn) rs2107902685
NM_004130.4(GYG1):c.491A>G (p.Gln164Arg)
NM_004130.4(GYG1):c.529A>G (p.Thr177Ala)
NM_004130.4(GYG1):c.533A>T (p.Asp178Val) rs752987232
NM_004130.4(GYG1):c.56C>T (p.Ala19Val)
NM_004130.4(GYG1):c.590A>G (p.Tyr197Cys)
NM_004130.4(GYG1):c.599C>T (p.Ala200Val)
NM_004130.4(GYG1):c.607G>A (p.Val203Met)
NM_004130.4(GYG1):c.647G>A (p.Arg216Gln) rs1035133767
NM_004130.4(GYG1):c.662A>C (p.Asn221Thr) rs1412348949
NM_004130.4(GYG1):c.668C>T (p.Thr223Ile)
NM_004130.4(GYG1):c.750G>T (p.Trp250Cys)
NM_004130.4(GYG1):c.752A>T (p.Asn251Ile)
NM_004130.4(GYG1):c.764C>T (p.Thr255Ile) rs2107921962
NM_004130.4(GYG1):c.769G>A (p.Val257Ile)
NM_004130.4(GYG1):c.814T>C (p.Ser272Pro)
NM_004130.4(GYG1):c.815C>T (p.Ser272Leu) rs1226277771
NM_004130.4(GYG1):c.820G>A (p.Val274Ile)
NM_004130.4(GYG1):c.851T>G (p.Leu284Arg)
NM_004130.4(GYG1):c.865G>A (p.Gly289Ser) rs1167301212
NM_004130.4(GYG1):c.875G>C (p.Arg292Thr)
NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)
NM_004130.4(GYG1):c.883G>A (p.Asp295Asn) rs202085215
NM_004130.4(GYG1):c.890C>T (p.Ser297Leu) rs2107924774
NM_004130.4(GYG1):c.896C>T (p.Ala299Val)
NM_004130.4(GYG1):c.901T>C (p.Ser301Pro)
NM_004130.4(GYG1):c.916G>T (p.Gly306Trp)
NM_004130.4(GYG1):c.933G>A (p.Met311Ile) rs2107924879
NM_004130.4(GYG1):c.934_942del (p.Ala312_Pro314del)
NM_004130.4(GYG1):c.953C>T (p.Ser318Leu)
NM_004130.4(GYG1):c.962G>A (p.Arg321Gln) rs566702762
NM_004130.4(GYG1):c.971G>A (p.Arg324Gln)
NM_004130.4(GYG1):c.98_100delinsATT (p.Arg33_Arg34delinsAsnTrp) rs2107884534

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