ClinVar Miner

List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Natera, Inc.

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000151.4(G6PC1):c.*23T>C rs2229611 0.72616
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02252
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_000151.4(G6PC1):c.340+42C>T rs116797100 0.00549
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.*3G>A rs191399793 0.00088
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00085
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487 0.00026
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.992C>T (p.Ala331Val) rs149486847 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.948C>A (p.Ser316=) rs137978566 0.00012
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) rs369472089 0.00006
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565 0.00005
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787 0.00005
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00005
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482 0.00003
NM_000151.4(G6PC1):c.726G>A (p.Gln242=) rs9905900 0.00003
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 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.365G>A (p.Gly122Asp) rs759982943 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483 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.161A>C (p.Gln54Pro) rs1057517008 0.00001
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566 0.00001
NM_000151.4(G6PC1):c.231-1G>A rs1555559279 0.00001
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176 0.00001
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) rs750470654 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000151.4(G6PC1):c.888C>G (p.Leu296=) rs1266860369 0.00001
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) rs2056023296
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter) rs2056043532
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.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) rs764401169
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter) rs2056081522
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala) rs1597991619
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu) rs780212338
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg) rs1410392732
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486

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