ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

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ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.*1454C>T rs148453821 0.00598
NM_000151.4(G6PC1):c.*2184T>A rs146025743 0.00450
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00133
NM_000151.4(G6PC1):c.*120G>A rs150477898 0.00126
NM_000151.4(G6PC1):c.*986A>T rs370935410 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00115
NM_000151.4(G6PC1):c.*1039G>T rs549474805 0.00107
NM_000151.4(G6PC1):c.*1400G>A rs113536060 0.00087
NM_000151.4(G6PC1):c.*2800G>A rs886052967 0.00079
NM_000151.4(G6PC1):c.*1986T>C rs542411157 0.00053
NM_000151.4(G6PC1):c.*1981C>T rs573802724 0.00034
NM_000151.4(G6PC1):c.*556C>T rs533491939 0.00032
NM_000151.4(G6PC1):c.*24A>C rs377739870 0.00030
NM_000151.4(G6PC1):c.*1970A>G rs192778595 0.00026
NM_000151.4(G6PC1):c.*17G>A rs34537381 0.00021
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218 0.00021
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00017
NM_000151.4(G6PC1):c.*2133C>T rs183542930 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00013
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000151.4(G6PC1):c.*1652C>T rs765883953 0.00010
NM_000151.4(G6PC1):c.*119C>T rs886052957 0.00009
NM_000151.4(G6PC1):c.*1324C>T rs548787621 0.00009
NM_000151.4(G6PC1):c.*2847T>C rs139115520 0.00007
NM_000151.4(G6PC1):c.*680G>A rs973632286 0.00007
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764 0.00007
NM_000151.4(G6PC1):c.*607G>A rs886052960 0.00006
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516 0.00006
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) rs369472089 0.00006
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln) rs181624619 0.00006
NM_000151.4(G6PC1):c.*103C>T rs1032152255 0.00005
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000151.4(G6PC1):c.*1513C>T rs374021788 0.00004
NM_000151.4(G6PC1):c.736G>A (p.Glu246Lys) rs889272586 0.00004
NM_000151.4(G6PC1):c.103G>A (p.Val35Met) rs757798234 0.00003
NM_000151.4(G6PC1):c.295G>A (p.Val99Met) rs746885993 0.00003
NM_000151.4(G6PC1):c.445C>T (p.Arg149Trp) rs779548820 0.00003
NM_000151.4(G6PC1):c.836T>C (p.Met279Thr) rs765631320 0.00003
NM_000151.4(G6PC1):c.970G>A (p.Val324Ile) rs376389208 0.00003
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258 0.00003
NM_000151.4(G6PC1):c.*1311G>A rs1395262885 0.00002
NM_000151.4(G6PC1):c.1055C>T (p.Pro352Leu) rs374852238 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000151.4(G6PC1):c.340+7G>A rs570199529 0.00002
NM_000151.4(G6PC1):c.431C>T (p.Pro144Leu) rs1470923557 0.00002
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile) rs766230068 0.00002
NM_000151.4(G6PC1):c.685G>A (p.Gly229Arg) rs765059867 0.00002
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748 0.00002
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile) rs774448424 0.00002
NM_000151.4(G6PC1):c.*1671C>T rs568149292 0.00001
NM_000151.4(G6PC1):c.*211T>C rs886052958 0.00001
NM_000151.4(G6PC1):c.*2134G>A rs886052963 0.00001
NM_000151.4(G6PC1):c.*251C>T rs753206089 0.00001
NM_000151.4(G6PC1):c.*2981G>T rs886052968 0.00001
NM_000151.4(G6PC1):c.1036G>A (p.Ala346Thr) rs1444458077 0.00001
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877 0.00001
NM_000151.4(G6PC1):c.1064A>G (p.Lys355Arg) rs777825445 0.00001
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn) rs746978011 0.00001
NM_000151.4(G6PC1):c.109G>A (p.Ala37Thr) rs781064575 0.00001
NM_000151.4(G6PC1):c.142C>T (p.Pro48Ser) rs2056022466 0.00001
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val) rs774215572 0.00001
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser) rs753502076 0.00001
NM_000151.4(G6PC1):c.231-12G>A rs373908549 0.00001
NM_000151.4(G6PC1):c.231-3T>C rs1233172989 0.00001
NM_000151.4(G6PC1):c.269A>G (p.Asp90Gly) rs771864998 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908 0.00001
NM_000151.4(G6PC1):c.383A>G (p.Tyr128Cys) rs2056069622 0.00001
NM_000151.4(G6PC1):c.395C>T (p.Thr132Ile) rs888493610 0.00001
NM_000151.4(G6PC1):c.408C>T (p.Ser136=) rs1469161155 0.00001
NM_000151.4(G6PC1):c.440G>A (p.Arg147Lys) rs1158575198 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000151.4(G6PC1):c.735C>T (p.Cys245=) rs750147891 0.00001
NM_000151.4(G6PC1):c.830C>A (p.Ser277Tyr) rs750048146 0.00001
NM_000151.4(G6PC1):c.856G>A (p.Gly286Arg) rs534670926 0.00001
NM_000151.4(G6PC1):c.888C>G (p.Leu296=) rs1266860369 0.00001
NM_000151.4(G6PC1):c.895A>G (p.Ile299Val) rs1310542864 0.00001
NM_000151.4(G6PC1):c.896T>C (p.Ile299Thr) rs780317668 0.00001
NM_000151.4(G6PC1):c.944C>T (p.Pro315Leu) rs753486821 0.00001
NM_000151.4(G6PC1):c.977C>G (p.Ser326Cys) rs1012152414 0.00001
NM_000151.4(G6PC1):c.98T>A (p.Val33Glu) rs778314834 0.00001
NC_000017.10:g.(?_41052894)_(41053143_?)dup
NC_000017.10:g.(?_41059520)_(41063443_?)dup
NM_000151.4(G6PC1):c.*1458C>T rs2056105397
NM_000151.4(G6PC1):c.*1466T>C rs2056105442
NM_000151.4(G6PC1):c.*1514G>A rs111309126
NM_000151.4(G6PC1):c.*1527C>T rs966575521
NM_000151.4(G6PC1):c.*1550G>T rs1324359967
NM_000151.4(G6PC1):c.*1552A>T rs138968865
NM_000151.4(G6PC1):c.*1640G>T rs556943624
NM_000151.4(G6PC1):c.*1901A>G rs2056108046
NM_000151.4(G6PC1):c.*2081T>A rs2056108904
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2857C>T rs2056113291
NM_000151.4(G6PC1):c.*286A>G rs886052959
NM_000151.4(G6PC1):c.*2980A>G rs2056113916
NM_000151.4(G6PC1):c.*492A>C rs532485841
NM_000151.4(G6PC1):c.*703G>A rs375295552
NM_000151.4(G6PC1):c.*714A>G rs886052961
NM_000151.4(G6PC1):c.*887T>C rs2056101326
NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile) rs367727229
NM_000151.4(G6PC1):c.1027T>A (p.Tyr343Asn)
NM_000151.4(G6PC1):c.1037C>T (p.Ala346Val) rs2544214596
NM_000151.4(G6PC1):c.1042del (p.Val348fs) rs2544214610
NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro) rs2544214644
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.4(G6PC1):c.1070_1072del (p.Leu357del) rs772035505
NM_000151.4(G6PC1):c.121A>G (p.Asn41Asp) rs991463430
NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu) rs775667677
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile) rs145749644
NM_000151.4(G6PC1):c.133G>C (p.Val45Leu) rs145749644
NM_000151.4(G6PC1):c.141C>G (p.Phe47Leu) rs1597986869
NM_000151.4(G6PC1):c.155A>T (p.His52Leu) rs1475897381
NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp) rs2056022671
NM_000151.4(G6PC1):c.172G>A (p.Gly58Ser) rs2544206613
NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys) rs764920787
NM_000151.4(G6PC1):c.18T>A (p.Asn6Lys) rs144652516
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.209G>C (p.Trp70Ser) rs1567702823
NM_000151.4(G6PC1):c.230+11T>C rs756151664
NM_000151.4(G6PC1):c.250C>T (p.Pro84Ser) rs2544208840
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg) rs2056043139
NM_000151.4(G6PC1):c.26A>G (p.His9Arg)
NM_000151.4(G6PC1):c.27T>A (p.His9Gln) rs1597986754
NM_000151.4(G6PC1):c.331A>T (p.Thr111Ser)
NM_000151.4(G6PC1):c.337C>T (p.Pro113Ser)
NM_000151.4(G6PC1):c.338C>T (p.Pro113Leu) rs2544208963
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala) rs544563908
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys) rs765306500
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile) rs765306500
NM_000151.4(G6PC1):c.473G>A (p.Gly158Glu) rs2151931742
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.562+4T>A rs2151931809
NM_000151.4(G6PC1):c.563-3C>T rs1597991608
NM_000151.4(G6PC1):c.563G>A (p.Gly188Asp) rs760981149
NM_000151.4(G6PC1):c.575C>T (p.Ala192Val) rs2544213885
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala) rs1597991619
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) rs2056021410
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) rs756944737
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu) rs780212338
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.6_7delinsAA (p.Glu3Lys) rs2151929052
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.756C>A (p.His252Gln)
NM_000151.4(G6PC1):c.780C>A (p.Ser260Arg) rs748610705
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.796G>A (p.Gly266Ser) rs2151932313
NM_000151.4(G6PC1):c.800C>G (p.Thr267Arg) rs145296477
NM_000151.4(G6PC1):c.85T>A (p.Trp29Arg) rs2544206444
NM_000151.4(G6PC1):c.91A>T (p.Ile31Phe) rs2544206450
NM_000151.4(G6PC1):c.928G>A (p.Asp310Asn) rs2056094149
NM_000151.4(G6PC1):c.92T>A (p.Ile31Asn) rs538960604
NM_000151.4(G6PC1):c.961G>A (p.Val321Ile) rs756241523
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC1):c.990T>G (p.Ser330Arg) rs748053431
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258

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