ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease type III by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
NM_000642.3(AGL):c.1076_1078dup (p.Pro359dup)
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu) rs146493448
NM_000642.3(AGL):c.1424G>T (p.Gly475Val) rs538916479
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn) rs1365513585
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312
NM_000642.3(AGL):c.1864A>G (p.Met622Val) rs145517369
NM_000642.3(AGL):c.1899+3A>G
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.2002-5T>A
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys) rs771211030
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu) rs746130741
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu) rs149331873
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val) rs1225426505
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.368C>T (p.Pro123Leu)
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu) rs1324875747
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser) rs892629109
NM_000642.3(AGL):c.3845C>G (p.Ser1282Cys)
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly) rs777095374
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708
NM_000642.3(AGL):c.4259+3A>T
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile) rs143815159
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586
NM_000642.3(AGL):c.805A>G (p.Lys269Glu)
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648
NM_000642.3(AGL):c.921C>A (p.Asn307Lys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.