ClinVar Miner

List of variants in gene GYG1 reported as likely benign for polyglucosan body myopathy type 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.609G>A (p.Val203=) rs75445811 0.00188
NM_004130.4(GYG1):c.98G>A (p.Arg33Lys) rs146101365 0.00128
NM_004130.4(GYG1):c.767A>C (p.Asn256Thr) rs142869401 0.00071
NM_004130.4(GYG1):c.46G>A (p.Ala16Thr) rs200947378 0.00019
NM_004130.4(GYG1):c.201C>T (p.Gly67=) rs149479866 0.00015
NM_004130.4(GYG1):c.300C>T (p.Phe100=) rs143167936 0.00014
NM_004130.4(GYG1):c.45C>T (p.Tyr15=) rs201443260 0.00008
NM_004130.4(GYG1):c.129C>T (p.Val43=) rs771303442 0.00006
NM_004130.4(GYG1):c.705C>T (p.Ala235=) rs776294715 0.00006
NM_004130.4(GYG1):c.942G>A (p.Pro314=) rs141745973 0.00006
NM_004130.4(GYG1):c.143+11C>T rs367745695 0.00005
NM_004130.4(GYG1):c.319-15C>T rs146500395 0.00005
NM_004130.4(GYG1):c.348C>G (p.Asp116Glu) rs978877121 0.00005
NM_004130.4(GYG1):c.609-15dup rs560773197 0.00005
NM_004130.4(GYG1):c.429T>C (p.Val143=) rs750396146 0.00004
NM_004130.4(GYG1):c.8-15T>C rs781644209 0.00004
NM_004130.4(GYG1):c.108C>T (p.Val36=) rs781241403 0.00003
NM_004130.4(GYG1):c.609-13G>A rs768737015 0.00003
NM_004130.4(GYG1):c.609-14C>T rs199593097 0.00003
NM_004130.4(GYG1):c.249G>A (p.Thr83=) rs772195768 0.00002
NM_004130.4(GYG1):c.273G>A (p.Ser91=) rs558123408 0.00002
NM_004130.4(GYG1):c.597G>A (p.Pro199=) rs759325295 0.00002
NM_004130.4(GYG1):c.609-11T>A rs146085961 0.00002
NM_004130.4(GYG1):c.8-13T>C rs199506295 0.00002
NM_004130.4(GYG1):c.828+9T>C rs770120197 0.00002
NM_004130.4(GYG1):c.918G>A (p.Gly306=) rs373972032 0.00002
NM_004130.4(GYG1):c.1002A>C (p.Gly334=) rs747131744 0.00001
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys) rs142784073 0.00001
NM_004130.4(GYG1):c.143+12G>A rs758525579 0.00001
NM_004130.4(GYG1):c.143+19C>A rs533609978 0.00001
NM_004130.4(GYG1):c.144-19C>A rs777012497 0.00001
NM_004130.4(GYG1):c.183A>G (p.Val61=) rs1358468626 0.00001
NM_004130.4(GYG1):c.252G>A (p.Leu84=) rs747087827 0.00001
NM_004130.4(GYG1):c.267C>T (p.Cys89=) rs1057521350 0.00001
NM_004130.4(GYG1):c.294T>C (p.Cys98=) rs1371218892 0.00001
NM_004130.4(GYG1):c.309A>G (p.Ala103=) rs1349302553 0.00001
NM_004130.4(GYG1):c.411C>T (p.Phe137=) rs937188326 0.00001
NM_004130.4(GYG1):c.482-14T>A rs1365158355 0.00001
NM_004130.4(GYG1):c.555T>C (p.Phe185=) rs1461184110 0.00001
NM_004130.4(GYG1):c.633G>A (p.Val211=) rs755431625 0.00001
NM_004130.4(GYG1):c.657A>G (p.Pro219=) rs956327847 0.00001
NM_004130.4(GYG1):c.663T>C (p.Asn221=) rs1273314125 0.00001
NM_004130.4(GYG1):c.66G>A (p.Leu22=) rs1234846583 0.00001
NM_004130.4(GYG1):c.672T>C (p.Tyr224=) rs745411888 0.00001
NM_004130.4(GYG1):c.738C>T (p.Leu246=) rs139080132 0.00001
NM_004130.4(GYG1):c.880-7T>C rs1559845476 0.00001
NM_004130.4(GYG1):c.954G>A (p.Ser318=) rs770605891 0.00001
NM_004130.4(GYG1):c.996T>C (p.Tyr332=) rs367851689 0.00001
NM_004130.4(GYG1):c.1005A>C (p.Ala335=) rs2107925024
NM_004130.4(GYG1):c.105G>A (p.Leu35=) rs1031181972
NM_004130.4(GYG1):c.132A>G (p.Ser44=)
NM_004130.4(GYG1):c.144-11T>G rs1712780538
NM_004130.4(GYG1):c.144-16G>A rs966472002
NM_004130.4(GYG1):c.144-16G>T
NM_004130.4(GYG1):c.144-17_144-13del
NM_004130.4(GYG1):c.174C>T (p.Val58=) rs751279594
NM_004130.4(GYG1):c.201C>A (p.Gly67=) rs149479866
NM_004130.4(GYG1):c.234A>G (p.Pro78=) rs757173719
NM_004130.4(GYG1):c.240G>A (p.Leu80=) rs2472709464
NM_004130.4(GYG1):c.25C>T (p.Leu9=) rs111907916
NM_004130.4(GYG1):c.261C>T (p.Leu87=) rs2472709557
NM_004130.4(GYG1):c.318+17G>A
NM_004130.4(GYG1):c.318+19G>A
NM_004130.4(GYG1):c.318+20T>G rs1156291692
NM_004130.4(GYG1):c.319-19C>G rs144099043
NM_004130.4(GYG1):c.319-19C>T rs144099043
NM_004130.4(GYG1):c.36C>T (p.Asn12=)
NM_004130.4(GYG1):c.375C>T (p.Asp125=) rs1712821501
NM_004130.4(GYG1):c.378A>C (p.Pro126=)
NM_004130.4(GYG1):c.481+16C>T
NM_004130.4(GYG1):c.482-16T>C
NM_004130.4(GYG1):c.501G>A (p.Leu167=) rs1219800251
NM_004130.4(GYG1):c.513T>C (p.Phe171=)
NM_004130.4(GYG1):c.579T>C (p.Ser193=)
NM_004130.4(GYG1):c.597G>T (p.Pro199=) rs759325295
NM_004130.4(GYG1):c.609-10C>T rs2472757279
NM_004130.4(GYG1):c.609-16T>C rs998673604
NM_004130.4(GYG1):c.60G>T (p.Leu20=) rs145419359
NM_004130.4(GYG1):c.615T>G (p.Gly205=) rs1714513294
NM_004130.4(GYG1):c.723T>C (p.Thr241=)
NM_004130.4(GYG1):c.765C>T (p.Thr255=) rs2472757984
NM_004130.4(GYG1):c.768C>T (p.Asn256=)
NM_004130.4(GYG1):c.8-4T>A
NM_004130.4(GYG1):c.8-6A>G
NM_004130.4(GYG1):c.810C>G (p.Thr270=) rs1229260430
NM_004130.4(GYG1):c.828+8C>G
NM_004130.4(GYG1):c.829-17T>C rs2107924343
NM_004130.4(GYG1):c.829-5T>C rs2472762073
NM_004130.4(GYG1):c.829-9T>C rs1576556746
NM_004130.4(GYG1):c.879+14A>G rs1436056981
NM_004130.4(GYG1):c.879+16A>G rs2107924455
NM_004130.4(GYG1):c.880-17T>C rs2472763015
NM_004130.4(GYG1):c.880-19A>G rs1559845472
NM_004130.4(GYG1):c.882A>G (p.Glu294=) rs752513837
NM_004130.4(GYG1):c.915T>C (p.Leu305=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.