ClinVar Miner

List of variants in gene G6PC1 reported as likely benign for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02252
NM_000151.4(G6PC1):c.*745G>T rs116897758 0.01352
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000151.4(G6PC1):c.*2975A>T rs145828729 0.00309
NM_000151.4(G6PC1):c.*2418G>C rs115371692 0.00224
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) rs201961848 0.00164
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00133
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00115
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00085
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085 0.00033
NM_000151.4(G6PC1):c.340+20C>T rs183285298 0.00031
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218 0.00021
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162 0.00019
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) rs141352548 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00013
NM_000151.4(G6PC1):c.793C>G (p.Leu265Val) rs140224951 0.00012
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) rs137978566 0.00012
NM_000151.4(G6PC1):c.657C>T (p.Phe219=) rs201520075 0.00008
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764 0.00007
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516 0.00006
NM_000151.4(G6PC1):c.340+13del rs781668568 0.00005
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00005
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513 0.00005
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met) rs145296477 0.00005
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=) rs780226142 0.00005
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.354C>G (p.Gly118=) rs766771010 0.00004
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile) rs751959283 0.00003
NM_000151.4(G6PC1):c.582T>C (p.Thr194=) rs754345839 0.00003
NM_000151.4(G6PC1):c.726G>A (p.Gln242=) rs9905900 0.00003
NM_000151.4(G6PC1):c.870G>A (p.Lys290=) rs368041878 0.00003
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258 0.00003
NM_000151.4(G6PC1):c.102C>T (p.Ser34=) rs747426958 0.00002
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 0.00002
NM_000151.4(G6PC1):c.246G>A (p.Gln82=) rs1026799180 0.00002
NM_000151.4(G6PC1):c.340+7G>A rs570199529 0.00002
NM_000151.4(G6PC1):c.446+20G>T rs747830634 0.00002
NM_000151.4(G6PC1):c.563-6A>G rs2056090751 0.00002
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748 0.00002
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073 0.00002
NM_000151.4(G6PC1):c.1003C>T (p.Leu335=) rs1445269628 0.00001
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=) rs373605105 0.00001
NM_000151.4(G6PC1):c.1026C>T (p.Pro342=) rs2056095342 0.00001
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=) rs1019836830 0.00001
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=) rs750975981 0.00001
NM_000151.4(G6PC1):c.1047G>T (p.Leu349=) rs1209679697 0.00001
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877 0.00001
NM_000151.4(G6PC1):c.108C>T (p.Ile36=) rs148461633 0.00001
NM_000151.4(G6PC1):c.147C>T (p.Ile49=) rs1304707892 0.00001
NM_000151.4(G6PC1):c.219C>A (p.Leu73=) rs373545775 0.00001
NM_000151.4(G6PC1):c.225T>C (p.Phe75=) rs781714941 0.00001
NM_000151.4(G6PC1):c.231-12G>A rs373908549 0.00001
NM_000151.4(G6PC1):c.240T>C (p.Phe80=) rs1476216590 0.00001
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=) rs748363083 0.00001
NM_000151.4(G6PC1):c.294C>T (p.Ser98=) rs777452219 0.00001
NM_000151.4(G6PC1):c.324C>G (p.Thr108=) rs1282008398 0.00001
NM_000151.4(G6PC1):c.341-12C>T rs774885342 0.00001
NM_000151.4(G6PC1):c.341-18C>A rs769303030 0.00001
NM_000151.4(G6PC1):c.357T>C (p.His119=) rs562533427 0.00001
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=) rs764401169 0.00001
NM_000151.4(G6PC1):c.446+19G>T rs1191883979 0.00001
NM_000151.4(G6PC1):c.447-4G>A rs756002909 0.00001
NM_000151.4(G6PC1):c.453G>A (p.Leu151=) rs369892096 0.00001
NM_000151.4(G6PC1):c.456T>C (p.Asn152=) rs1271832382 0.00001
NM_000151.4(G6PC1):c.45A>C (p.Ser15=) rs1394010585 0.00001
NM_000151.4(G6PC1):c.469T>C (p.Leu157=) rs1418925476 0.00001
NM_000151.4(G6PC1):c.471G>A (p.Leu157=) rs771720935 0.00001
NM_000151.4(G6PC1):c.490C>T (p.Leu164=) rs987462071 0.00001
NM_000151.4(G6PC1):c.562+11A>C rs1192404047 0.00001
NM_000151.4(G6PC1):c.562+7G>A rs2056082387 0.00001
NM_000151.4(G6PC1):c.570T>C (p.Ala190=) rs753671536 0.00001
NM_000151.4(G6PC1):c.642C>T (p.Phe214=) rs1237769909 0.00001
NM_000151.4(G6PC1):c.66T>C (p.Asn22=) rs766886771 0.00001
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975 0.00001
NM_000151.4(G6PC1):c.771C>T (p.Pro257=) rs1239153875 0.00001
NM_000151.4(G6PC1):c.780C>T (p.Ser260=) rs748610705 0.00001
NM_000151.4(G6PC1):c.801G>A (p.Thr267=) rs755630386 0.00001
NM_000151.4(G6PC1):c.804C>T (p.Leu268=) rs377077333 0.00001
NM_000151.4(G6PC1):c.822T>C (p.Ala274=) rs761361643 0.00001
NM_000151.4(G6PC1):c.921C>T (p.His307=) rs2056094089 0.00001
NM_000151.4(G6PC1):c.954C>A (p.Val318=) rs372612424 0.00001
NM_000151.4(G6PC1):c.1005G>A (p.Leu335=) rs2544214542
NM_000151.4(G6PC1):c.1008A>G (p.Ala336=) rs2544214546
NM_000151.4(G6PC1):c.1014C>T (p.Val338=) rs2151932415
NM_000151.4(G6PC1):c.1020C>T (p.Val340=) rs2544214562
NM_000151.4(G6PC1):c.1023C>A (p.Ile341=) rs2056095309
NM_000151.4(G6PC1):c.1023C>T (p.Ile341=) rs2056095309
NM_000151.4(G6PC1):c.1035C>A (p.Leu345=) rs750975981
NM_000151.4(G6PC1):c.1044C>G (p.Val348=) rs975072899
NM_000151.4(G6PC1):c.1050C>A (p.Gly350=) rs2151932440
NM_000151.4(G6PC1):c.1056G>C (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1056G>T (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1068G>T (p.Ser356=)
NM_000151.4(G6PC1):c.114C>T (p.Asp38=) rs2151929114
NM_000151.4(G6PC1):c.126C>A (p.Ala42=) rs2544206517
NM_000151.4(G6PC1):c.126C>T (p.Ala42=) rs2544206517
NM_000151.4(G6PC1):c.135C>A (p.Val45=) rs915251848
NM_000151.4(G6PC1):c.141C>T (p.Phe47=) rs1597986869
NM_000151.4(G6PC1):c.144C>T (p.Pro48=) rs2151929134
NM_000151.4(G6PC1):c.156T>C (p.His52=) rs968624599
NM_000151.4(G6PC1):c.195T>A (p.Ala65=) rs2544206662
NM_000151.4(G6PC1):c.216C>T (p.Asn72=) rs2151929168
NM_000151.4(G6PC1):c.219C>T (p.Leu73=) rs373545775
NM_000151.4(G6PC1):c.230+10A>G rs2056023415
NM_000151.4(G6PC1):c.230+11T>C rs756151664
NM_000151.4(G6PC1):c.230+13T>C rs1370669414
NM_000151.4(G6PC1):c.230+14A>G rs780134732
NM_000151.4(G6PC1):c.230+16A>G rs2544206757
NM_000151.4(G6PC1):c.230+8C>T rs1373918170
NM_000151.4(G6PC1):c.230+9C>A rs2544206740
NM_000151.4(G6PC1):c.231-10T>C rs2544208788
NM_000151.4(G6PC1):c.231-15T>C rs752348580
NM_000151.4(G6PC1):c.231-17G>T rs2544208778
NM_000151.4(G6PC1):c.231-20C>G rs1390405075
NM_000151.4(G6PC1):c.231-4A>G rs1200297208
NM_000151.4(G6PC1):c.231-5C>T rs1332657768
NM_000151.4(G6PC1):c.231-7T>C rs2544208789
NM_000151.4(G6PC1):c.231-8T>A rs2151929984
NM_000151.4(G6PC1):c.234T>C (p.Ile78=) rs2544208811
NM_000151.4(G6PC1):c.252A>G (p.Pro84=) rs148967047
NM_000151.4(G6PC1):c.273T>G (p.Thr91=) rs2151930014
NM_000151.4(G6PC1):c.285C>T (p.Ser95=) rs1344809349
NM_000151.4(G6PC1):c.297G>A (p.Val99=) rs2544208911
NM_000151.4(G6PC1):c.297G>T (p.Val99=) rs2544208911
NM_000151.4(G6PC1):c.315C>T (p.Phe105=) rs2151930034
NM_000151.4(G6PC1):c.340+10C>T rs368450665
NM_000151.4(G6PC1):c.340+14C>T rs2544208991
NM_000151.4(G6PC1):c.340+20C>A
NM_000151.4(G6PC1):c.340+7G>C rs570199529
NM_000151.4(G6PC1):c.340+7G>T rs570199529
NM_000151.4(G6PC1):c.340+8T>A rs2056043959
NM_000151.4(G6PC1):c.340+9C>T rs2544208977
NM_000151.4(G6PC1):c.341-13T>C
NM_000151.4(G6PC1):c.341-6C>A
NM_000151.4(G6PC1):c.341-6C>T rs2544211249
NM_000151.4(G6PC1):c.341-8C>A rs748912020
NM_000151.4(G6PC1):c.341-8C>G rs748912020
NM_000151.4(G6PC1):c.341-8C>T rs748912020
NM_000151.4(G6PC1):c.342G>T (p.Gly114=) rs2056069241
NM_000151.4(G6PC1):c.354C>T (p.Gly118=) rs766771010
NM_000151.4(G6PC1):c.360C>T (p.Ala120=) rs2151931156
NM_000151.4(G6PC1):c.369A>G (p.Thr123=) rs1371413603
NM_000151.4(G6PC1):c.381C>T (p.Tyr127=) rs1555559741
NM_000151.4(G6PC1):c.396A>G (p.Thr132=) rs2544211326
NM_000151.4(G6PC1):c.399T>C (p.Ser133=) rs1255472535
NM_000151.4(G6PC1):c.402T>C (p.Thr134=) rs2151931180
NM_000151.4(G6PC1):c.405T>C (p.Leu135=) rs2151931181
NM_000151.4(G6PC1):c.42G>A (p.Gln14=) rs763922040
NM_000151.4(G6PC1):c.432G>C (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.435C>G (p.Thr145=) rs745770086
NM_000151.4(G6PC1):c.435C>T (p.Thr145=) rs745770086
NM_000151.4(G6PC1):c.446+16T>C
NM_000151.4(G6PC1):c.446+17G>A rs1597989995
NM_000151.4(G6PC1):c.446+19G>A rs1191883979
NM_000151.4(G6PC1):c.446+20G>A rs747830634
NM_000151.4(G6PC1):c.446+7A>C rs1003569893
NM_000151.4(G6PC1):c.447-14C>T
NM_000151.4(G6PC1):c.447-20G>T
NM_000151.4(G6PC1):c.447-6T>C rs1597990833
NM_000151.4(G6PC1):c.450C>T (p.Cys150=) rs753856233
NM_000151.4(G6PC1):c.459C>T (p.Val153=) rs747740866
NM_000151.4(G6PC1):c.45A>G (p.Ser15=) rs1394010585
NM_000151.4(G6PC1):c.486G>A (p.Val162=) rs2544212806
NM_000151.4(G6PC1):c.48A>C (p.Thr16=) rs1336371097
NM_000151.4(G6PC1):c.534T>C (p.Pro178=) rs774585761
NM_000151.4(G6PC1):c.549T>C (p.Ala183=) rs375921716
NM_000151.4(G6PC1):c.562+19C>T rs2544212942
NM_000151.4(G6PC1):c.562+25_562+28del rs2544212946
NM_000151.4(G6PC1):c.562+9T>C rs1263744036
NM_000151.4(G6PC1):c.563-18A>G rs1204439556
NM_000151.4(G6PC1):c.563-18A>T rs1204439556
NM_000151.4(G6PC1):c.563-20T>C
NM_000151.4(G6PC1):c.563-5C>T rs1246163955
NM_000151.4(G6PC1):c.563-8C>T rs907204295
NM_000151.4(G6PC1):c.57C>T (p.Leu19=) rs2544206399
NM_000151.4(G6PC1):c.600C>T (p.Ser200=) rs2151932246
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC1):c.618C>G (p.Leu206=)
NM_000151.4(G6PC1):c.633C>T (p.Leu211=) rs2544213985
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.663C>T (p.Ile221=) rs747134498
NM_000151.4(G6PC1):c.673C>T (p.Leu225=) rs2544214047
NM_000151.4(G6PC1):c.678G>C (p.Leu226=) rs2544214057
NM_000151.4(G6PC1):c.693T>C (p.Gly231=) rs2544214083
NM_000151.4(G6PC1):c.699C>T (p.Asp233=) rs1285837426
NM_000151.4(G6PC1):c.69C>T (p.Tyr23=) rs1597986791
NM_000151.4(G6PC1):c.6G>A (p.Glu2=)
NM_000151.4(G6PC1):c.702C>G (p.Leu234=) rs1356828030
NM_000151.4(G6PC1):c.702C>T (p.Leu234=) rs1356828030
NM_000151.4(G6PC1):c.705G>A (p.Leu235=) rs1233768137
NM_000151.4(G6PC1):c.729G>A (p.Arg243=) rs1567706350
NM_000151.4(G6PC1):c.747A>G (p.Glu249=) rs2544214152
NM_000151.4(G6PC1):c.753C>A (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.753C>T (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.762C>T (p.Asp254=) rs2544214168
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.783C>T (p.Leu261=) rs2544214203
NM_000151.4(G6PC1):c.786C>G (p.Leu262=) rs138509513
NM_000151.4(G6PC1):c.789G>A (p.Lys263=) rs2544214217
NM_000151.4(G6PC1):c.792C>T (p.Asn264=) rs1555560149
NM_000151.4(G6PC1):c.793C>T (p.Leu265=)
NM_000151.4(G6PC1):c.801G>T (p.Thr267=) rs755630386
NM_000151.4(G6PC1):c.810C>G (p.Gly270=) rs899288649
NM_000151.4(G6PC1):c.811C>T (p.Leu271=) rs2151932325
NM_000151.4(G6PC1):c.813G>C (p.Leu271=) rs370182849
NM_000151.4(G6PC1):c.816G>A (p.Gly272=) rs762728678
NM_000151.4(G6PC1):c.816G>T (p.Gly272=) rs762728678
NM_000151.4(G6PC1):c.846G>A (p.Glu282=) rs374980545
NM_000151.4(G6PC1):c.855G>A (p.Lys285=) rs2056093568
NM_000151.4(G6PC1):c.864C>A (p.Leu288=)
NM_000151.4(G6PC1):c.891C>T (p.Ser297=) rs2544214366
NM_000151.4(G6PC1):c.903C>T (p.Ala301=) rs2544214384
NM_000151.4(G6PC1):c.909C>G (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.918G>A (p.Leu306=) rs2544214399
NM_000151.4(G6PC1):c.927T>C (p.Phe309=) rs2544214409
NM_000151.4(G6PC1):c.930C>T (p.Asp310=) rs1454392916
NM_000151.4(G6PC1):c.93C>T (p.Ile31=) rs2544206451
NM_000151.4(G6PC1):c.945A>G (p.Pro315=) rs2056094359
NM_000151.4(G6PC1):c.948C>T (p.Ser316=) rs137978566
NM_000151.4(G6PC1):c.94T>C (p.Leu32=) rs1185147855
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.957G>A (p.Glu319=) rs111259657
NM_000151.4(G6PC1):c.960G>A (p.Leu320=) rs531727073
NM_000151.4(G6PC1):c.966C>T (p.Phe322=) rs1399520060
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.999G>A (p.Val333=) rs2151932408
NM_000151.4(G6PC1):c.9A>G (p.Glu3=) rs2151929054

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