ClinVar Miner

List of variants reported as uncertain significance for GNE myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005476.7(GNE):c.*691A>T rs10972791 0.11652
NM_005476.7(GNE):c.*1660A>G rs185870650 0.00237
NM_005476.7(GNE):c.-102G>C rs1053014986 0.00095
NM_005476.7(GNE):c.*1728C>T rs41277097 0.00070
NM_005476.7(GNE):c.*2679G>A rs566044462 0.00054
NM_005476.7(GNE):c.*446C>T rs886063924 0.00029
NM_005476.7(GNE):c.*582A>G rs999645453 0.00026
NM_005476.7(GNE):c.*1575C>T rs761447556 0.00019
NM_005476.7(GNE):c.*208T>C rs771508931 0.00019
NM_005476.7(GNE):c.*1007G>A rs1192808563 0.00017
NM_005476.7(GNE):c.*1038T>C rs975309543 0.00014
NM_005476.7(GNE):c.*252A>C rs745365886 0.00012
NM_005476.7(GNE):c.*2537G>A rs1042849497 0.00011
NM_005476.7(GNE):c.*2847T>C rs886063915 0.00010
NM_005476.7(GNE):c.*2877T>C rs886063914 0.00010
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005476.7(GNE):c.1293T>A (p.Val431=) rs143485388 0.00007
NM_005476.7(GNE):c.*2448A>G rs757287887 0.00006
NM_005476.7(GNE):c.*573G>A rs1032415165 0.00006
NM_005476.7(GNE):c.*872C>T rs1008750814 0.00005
NM_005476.7(GNE):c.1234G>A (p.Val412Ile) rs369714039 0.00004
NM_005476.7(GNE):c.1767A>G (p.Ala589=) rs777310871 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005476.7(GNE):c.*2245A>T rs1193929989 0.00003
NM_005476.7(GNE):c.*512C>T rs537851886 0.00003
NM_005476.7(GNE):c.*554G>A rs755277976 0.00003
NM_005476.7(GNE):c.-51C>T rs368282013 0.00003
NM_005476.7(GNE):c.*2431A>G rs917794045 0.00002
NM_005476.7(GNE):c.*2766T>C rs886063916 0.00002
NM_001128227.3(GNE):c.52-9097C>T rs886063929 0.00001
NM_005476.7(GNE):c.*2453C>A rs1163596916 0.00001
NM_005476.7(GNE):c.*2550G>A rs191345940 0.00001
NM_005476.7(GNE):c.*2709T>C rs1390610132 0.00001
NM_005476.7(GNE):c.*513G>A rs886063923 0.00001
NM_005476.7(GNE):c.1251G>A (p.Thr417=) rs758086020 0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys) rs1306768272 0.00001
NM_005476.7(GNE):c.2079C>T (p.Asp693=) rs548244588 0.00001
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu) rs552758282 0.00001
NM_005476.7(GNE):c.530G>A (p.Arg177His) rs772597073 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_001128227.3(GNE):c.52-9070C>T rs886063928
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_005476.7(GNE):c.*1012CA[10] rs10527967
NM_005476.7(GNE):c.*1012CA[14] rs10527967
NM_005476.7(GNE):c.*1012CA[15] rs10527967
NM_005476.7(GNE):c.*1012CA[16] rs10527967
NM_005476.7(GNE):c.*1012CA[22] rs10527967
NM_005476.7(GNE):c.*1127C>T rs1828268117
NM_005476.7(GNE):c.*1694G>C rs886063918
NM_005476.7(GNE):c.*1854C>T rs1828233358
NM_005476.7(GNE):c.*2185T>A rs1828216707
NM_005476.7(GNE):c.*2410G>C rs886063917
NM_005476.7(GNE):c.*2905_*2906del rs886063913
NM_005476.7(GNE):c.*292C>G rs1335595008
NM_005476.7(GNE):c.*663A>G rs1373838375
NM_005476.7(GNE):c.*690T>A rs10972792
NM_005476.7(GNE):c.*692AAT[10] rs113316798
NM_005476.7(GNE):c.*692AAT[12] rs113316798
NM_005476.7(GNE):c.*692AAT[13] rs113316798
NM_005476.7(GNE):c.*692AAT[9] rs113316798
NM_005476.7(GNE):c.*693A>T rs886063922
NM_005476.7(GNE):c.*694T>A rs867926432
NM_005476.7(GNE):c.*702dup rs886063921
NM_005476.7(GNE):c.*988G>C rs916769105
NM_005476.7(GNE):c.1281+13C>A rs1022557448
NM_005476.7(GNE):c.1482G>A (p.Glu494=) rs1485580233
NM_005476.7(GNE):c.1816+11del rs886063925
NM_005476.7(GNE):c.315T>C (p.Asp105=) rs886063927
NM_005476.7(GNE):c.753T>C (p.Phe251=) rs370479900
NM_005476.7(GNE):c.769+4A>G rs886063926

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.