ClinVar Miner

List of variants in gene GYG1 studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.552G>A (p.Pro184=) rs4938 0.29862
NM_004130.4(GYG1):c.114C>T (p.Leu38=) rs61733452 0.04021
NM_004130.4(GYG1):c.319-12C>T rs114156848 0.00990
NM_004130.4(GYG1):c.159A>G (p.Thr53=) rs148619511 0.00795
NM_004130.4(GYG1):c.608+14G>C rs200902926 0.00366
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.304G>C (p.Asp102His) rs143137713 0.00109
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp) rs140175164 0.00092
NM_004130.4(GYG1):c.767A>C (p.Asn256Thr) rs142869401 0.00071
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) rs112622137 0.00041
NM_004130.4(GYG1):c.60G>A (p.Leu20=) rs145419359 0.00026
NM_004130.4(GYG1):c.348C>G (p.Asp116Glu) rs978877121 0.00025
NM_004130.4(GYG1):c.1041T>A (p.Thr347=) rs202027758 0.00023
NM_004130.4(GYG1):c.829-13G>A rs188887329 0.00021
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_004130.4(GYG1):c.601T>G (p.Phe201Val) rs142318183 0.00016
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.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.499C>T (p.Leu167=) rs551623234 0.00012
NM_004130.4(GYG1):c.45C>T (p.Tyr15=) rs201443260 0.00009
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.129C>T (p.Val43=) rs771303442 0.00006
NM_004130.4(GYG1):c.130T>C (p.Ser44Pro) rs527407055 0.00006
NM_004130.4(GYG1):c.143+11C>T rs367745695 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.942G>A (p.Pro314=) rs141745973 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.8-15T>C rs781644209 0.00004
NM_004130.4(GYG1):c.928G>C (p.Ala310Pro) rs1363436975 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.716A>C (p.Asn239Thr) rs759134229 0.00003
NM_004130.4(GYG1):c.249G>A (p.Thr83=) rs772195768 0.00002
NM_004130.4(GYG1):c.755T>C (p.Ile252Thr) rs552267180 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.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.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.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.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.403G>A (p.Gly135Arg) rs566956486 0.00001
NM_004130.4(GYG1):c.481+2T>C rs1173594490 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.631del (p.Val211fs) rs1429663478 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.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.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_004130.4(GYG1):c.996T>C (p.Tyr332=) rs367851689 0.00001
NC_000003.12:g.148996742del
NM_004130.4(GYG1):c.1005A>C (p.Ala335=) rs2107925024
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.105G>A (p.Leu35=)
NM_004130.4(GYG1):c.108C>T (p.Val36=)
NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)
NM_004130.4(GYG1):c.112C>T (p.Leu38Phe)
NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)
NM_004130.4(GYG1):c.143+19C>A
NM_004130.4(GYG1):c.143+3G>T
NM_004130.4(GYG1):c.144-11T>G
NM_004130.4(GYG1):c.144-16G>A
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter) rs1559834349
NM_004130.4(GYG1):c.160G>T (p.Val54Phe)
NM_004130.4(GYG1):c.174C>T (p.Val58=) rs751279594
NM_004130.4(GYG1):c.179T>C (p.Met60Thr) rs2107886926
NM_004130.4(GYG1):c.183A>G (p.Val61=)
NM_004130.4(GYG1):c.201C>A (p.Gly67=)
NM_004130.4(GYG1):c.203A>G (p.Asp68Gly) rs1712787449
NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)
NM_004130.4(GYG1):c.234A>G (p.Pro78=)
NM_004130.4(GYG1):c.240G>A (p.Leu80=)
NM_004130.4(GYG1):c.248C>G (p.Thr83Arg) rs267606858
NM_004130.4(GYG1):c.248C>T (p.Thr83Met) 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.25C>T (p.Leu9=)
NM_004130.4(GYG1):c.261C>T (p.Leu87=)
NM_004130.4(GYG1):c.26dup (p.Thr10fs)
NM_004130.4(GYG1):c.272C>T (p.Ser91Leu)
NM_004130.4(GYG1):c.273G>A (p.Ser91=)
NM_004130.4(GYG1):c.318+20T>G
NM_004130.4(GYG1):c.318+6T>A
NM_004130.4(GYG1):c.319-19C>G rs144099043
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.352_353del (p.Glu118fs)
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.375C>T (p.Asp125=)
NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)
NM_004130.4(GYG1):c.411C>T (p.Phe137=)
NM_004130.4(GYG1):c.425C>T (p.Ser142Leu) rs1576538459
NM_004130.4(GYG1):c.429T>C (p.Val143=)
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.452A>T (p.His151Leu) rs35054019
NM_004130.4(GYG1):c.482-14T>A rs1365158355
NM_004130.4(GYG1):c.482-1G>C
NM_004130.4(GYG1):c.482G>A (p.Gly161Asp)
NM_004130.4(GYG1):c.487G>A (p.Asp163Asn) rs2107902685
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)
NM_004130.4(GYG1):c.491A>G (p.Gln164Arg)
NM_004130.4(GYG1):c.501G>A (p.Leu167=)
NM_004130.4(GYG1):c.529A>G (p.Thr177Ala)
NM_004130.4(GYG1):c.533A>T (p.Asp178Val) rs752987232
NM_004130.4(GYG1):c.555T>C (p.Phe185=)
NM_004130.4(GYG1):c.56C>T (p.Ala19Val)
NM_004130.4(GYG1):c.590A>G (p.Tyr197Cys)
NM_004130.4(GYG1):c.597G>A (p.Pro199=)
NM_004130.4(GYG1):c.597G>T (p.Pro199=)
NM_004130.4(GYG1):c.599C>T (p.Ala200Val)
NM_004130.4(GYG1):c.607G>A (p.Val203Met)
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.646C>T (p.Arg216Ter)
NM_004130.4(GYG1):c.647G>A (p.Arg216Gln) rs1035133767
NM_004130.4(GYG1):c.657A>G (p.Pro219=)
NM_004130.4(GYG1):c.662A>C (p.Asn221Thr) rs1412348949
NM_004130.4(GYG1):c.668C>T (p.Thr223Ile)
NM_004130.4(GYG1):c.672T>C (p.Tyr224=)
NM_004130.4(GYG1):c.683del (p.Thr228fs)
NM_004130.4(GYG1):c.705C>T (p.Ala235=)
NM_004130.4(GYG1):c.738C>T (p.Leu246=)
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter) rs727502870
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.765C>T (p.Thr255=)
NM_004130.4(GYG1):c.769G>A (p.Val257Ile)
NM_004130.4(GYG1):c.8-13T>C
NM_004130.4(GYG1):c.810C>G (p.Thr270=)
NM_004130.4(GYG1):c.814T>C (p.Ser272Pro)
NM_004130.4(GYG1):c.815C>T (p.Ser272Leu) rs1226277771
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter) rs1714533252
NM_004130.4(GYG1):c.820G>A (p.Val274Ile)
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.82C>T (p.Gln28Ter)
NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)
NM_004130.4(GYG1):c.844dup (p.Tyr282fs)
NM_004130.4(GYG1):c.851T>G (p.Leu284Arg)
NM_004130.4(GYG1):c.865G>A (p.Gly289Ser) rs1167301212
NM_004130.4(GYG1):c.866G>T (p.Gly289Val) rs1553733613
NM_004130.4(GYG1):c.875G>C (p.Arg292Thr)
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.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.93dup (p.Thr32fs)
NM_004130.4(GYG1):c.953C>T (p.Ser318Leu)
NM_004130.4(GYG1):c.954G>A (p.Ser318=)
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln) rs1714679440
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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