ClinVar Miner

List of variants in gene GSDME studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_001127453.2(GSDME):c.405-15G>A rs754553 0.18061
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) rs754555 0.17320
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) rs17149912 0.16349
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) rs12540919 0.07873
NM_001127453.2(GSDME):c.863-6T>C rs55735863 0.03926
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_004403.3(GSDME):c.521T>C (p.Met174Thr) rs876306 0.00242
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787 0.00076
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter) rs200758965 0.00032
NM_001127453.2(GSDME):c.1118G>A (p.Gly373Asp) rs146399987 0.00031
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001127453.2(GSDME):c.1183+9A>T rs397516910 0.00014
NM_001127453.2(GSDME):c.830C>T (p.Ser277Phe) rs375794218 0.00010
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu) rs148370267 0.00010
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) rs368035633 0.00007
NM_001127453.2(GSDME):c.587C>T (p.Thr196Met) rs183361282 0.00005
NM_001127453.2(GSDME):c.686dup (p.Asp229fs) rs777408599 0.00005
NM_001127453.2(GSDME):c.553G>A (p.Gly185Ser) rs376265514 0.00003
NM_001127453.2(GSDME):c.687C>T (p.Asp229=) rs371054976 0.00003
NM_001127453.2(GSDME):c.1017G>A (p.Ser339=) rs201545458 0.00002
NM_001127453.2(GSDME):c.1197C>T (p.Ser399=) rs778523430 0.00002
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001127453.2(GSDME):c.1218T>C (p.Thr406=) rs727505338 0.00001
NM_001127453.2(GSDME):c.1331G>T (p.Arg444Met) rs780683974 0.00001
NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro) rs727502954 0.00001
NM_001127453.2(GSDME):c.969A>G (p.Leu323=) rs397516911 0.00001
NM_004403.3(GSDME):c.862+10dup rs730880353 0.00001
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_001127453.2(GSDME):c.1213G>A (p.Gly405Ser) rs566450742
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_001127453.2(GSDME):c.1355T>C (p.Phe452Ser) rs727502953
NM_001127453.2(GSDME):c.1416G>A (p.Lys472=) rs727504956
NM_001127453.2(GSDME):c.212-6T>A rs876657773
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) rs754554
NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys) rs1554325967
NM_001127453.2(GSDME):c.938T>C (p.Ile313Thr) rs1584052885
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg) rs373787249
NM_004403.3(GSDME):c.119dup (p.Lys41fs) rs758488919
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter) rs200205042

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.