ClinVar Miner

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

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Gene type:
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Total variants: 73
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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.348C>G (p.Asp116Glu) rs978877121 0.00025
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 0.00009
NM_004130.4(GYG1):c.129C>T (p.Val43=) rs771303442 0.00006
NM_004130.4(GYG1):c.143+11C>T rs367745695 0.00006
NM_004130.4(GYG1):c.942G>A (p.Pro314=) rs141745973 0.00006
NM_004130.4(GYG1):c.8-15T>C rs781644209 0.00004
NM_004130.4(GYG1):c.46G>A (p.Ala16Thr) rs200947378 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.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.144-19C>A rs777012497 0.00001
NM_004130.4(GYG1):c.252G>A (p.Leu84=) rs747087827 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.663T>C (p.Asn221=) rs1273314125 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=)
NM_004130.4(GYG1):c.108C>T (p.Val36=)
NM_004130.4(GYG1):c.143+19C>A
NM_004130.4(GYG1):c.144-11T>G
NM_004130.4(GYG1):c.144-16G>A
NM_004130.4(GYG1):c.174C>T (p.Val58=) rs751279594
NM_004130.4(GYG1):c.183A>G (p.Val61=)
NM_004130.4(GYG1):c.201C>A (p.Gly67=)
NM_004130.4(GYG1):c.234A>G (p.Pro78=)
NM_004130.4(GYG1):c.240G>A (p.Leu80=)
NM_004130.4(GYG1):c.25C>T (p.Leu9=)
NM_004130.4(GYG1):c.261C>T (p.Leu87=)
NM_004130.4(GYG1):c.273G>A (p.Ser91=)
NM_004130.4(GYG1):c.318+20T>G
NM_004130.4(GYG1):c.319-19C>G rs144099043
NM_004130.4(GYG1):c.375C>T (p.Asp125=)
NM_004130.4(GYG1):c.411C>T (p.Phe137=)
NM_004130.4(GYG1):c.429T>C (p.Val143=)
NM_004130.4(GYG1):c.482-14T>A rs1365158355
NM_004130.4(GYG1):c.501G>A (p.Leu167=)
NM_004130.4(GYG1):c.555T>C (p.Phe185=)
NM_004130.4(GYG1):c.597G>A (p.Pro199=)
NM_004130.4(GYG1):c.597G>T (p.Pro199=)
NM_004130.4(GYG1):c.609-10C>T
NM_004130.4(GYG1):c.609-11T>A
NM_004130.4(GYG1):c.609-13G>A
NM_004130.4(GYG1):c.609-15dup
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=)
NM_004130.4(GYG1):c.633G>A (p.Val211=)
NM_004130.4(GYG1):c.657A>G (p.Pro219=)
NM_004130.4(GYG1):c.672T>C (p.Tyr224=)
NM_004130.4(GYG1):c.705C>T (p.Ala235=)
NM_004130.4(GYG1):c.738C>T (p.Leu246=)
NM_004130.4(GYG1):c.765C>T (p.Thr255=)
NM_004130.4(GYG1):c.8-13T>C
NM_004130.4(GYG1):c.810C>G (p.Thr270=)
NM_004130.4(GYG1):c.828+9T>C
NM_004130.4(GYG1):c.829-17T>C rs2107924343
NM_004130.4(GYG1):c.829-5T>C
NM_004130.4(GYG1):c.829-9T>C
NM_004130.4(GYG1):c.879+14A>G
NM_004130.4(GYG1):c.879+16A>G rs2107924455
NM_004130.4(GYG1):c.880-17T>C
NM_004130.4(GYG1):c.880-19A>G
NM_004130.4(GYG1):c.880-7T>C
NM_004130.4(GYG1):c.954G>A (p.Ser318=)

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