ClinVar Miner

List of variants studied for congenital myasthenic syndrome with tubular aggregates by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.*3065G>A rs7568296 0.67342
NM_001244710.2(GFPT1):c.*5001G>A rs13396883 0.66919
NM_001244710.2(GFPT1):c.*3285A>G rs7579532 0.66906
NM_001244710.2(GFPT1):c.*6085C>G rs7642 0.66555
NM_001244710.2(GFPT1):c.*2269A>G rs10198171 0.66442
NM_001244710.2(GFPT1):c.*4059A>G rs13751 0.65899
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_001244710.2(GFPT1):c.*3091A>C rs7582334 0.65873
NM_001244710.2(GFPT1):c.*2669C>T rs10185336 0.65232
NM_001244710.2(GFPT1):c.*800G>T rs2667 0.65228
NM_001244710.2(GFPT1):c.*2310A>G rs10198150 0.65225
NM_001244710.2(GFPT1):c.*4730G>A rs28694003 0.65218
NM_001244710.2(GFPT1):c.*4826A>C rs67016706 0.12917
NM_001244710.2(GFPT1):c.*2510A>T rs61159728 0.02619
NM_001244710.2(GFPT1):c.*1244G>T rs73937246 0.02428
NM_001244710.2(GFPT1):c.*6094C>T rs55888680 0.02423
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_001244710.2(GFPT1):c.*2685A>G rs74972420 0.01293
NM_001244710.2(GFPT1):c.*2219C>T rs149217357 0.01291
NM_001244710.2(GFPT1):c.408+7A>T rs112682152 0.01229
NM_001244710.2(GFPT1):c.*603G>A rs78097440 0.01222
NM_001244710.2(GFPT1):c.*1085A>G rs75177078 0.01153
NM_001244710.2(GFPT1):c.*4053T>A rs4128250 0.01067
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=) rs78952091 0.00975
NM_001244710.2(GFPT1):c.*4403G>T rs148687340 0.00642
NM_001244710.2(GFPT1):c.*6366T>C rs115964031 0.00633
NM_001244710.2(GFPT1):c.*2511T>A rs60949141 0.00572
NM_001244710.2(GFPT1):c.*169C>T rs6729690 0.00459
NM_001244710.2(GFPT1):c.*6003G>T rs143649075 0.00416
NM_001244710.2(GFPT1):c.*867G>A rs72905155 0.00389
NM_001244710.2(GFPT1):c.*2364C>T rs182934478 0.00379
NM_001244710.2(GFPT1):c.*2916A>G rs114138715 0.00379
NM_001244710.2(GFPT1):c.*666T>C rs543343212 0.00376
NM_001244710.2(GFPT1):c.*2428G>A rs191588030 0.00321
NM_001244710.2(GFPT1):c.*1053G>A rs535434783 0.00308
NM_001244710.2(GFPT1):c.*4259C>T rs186353485 0.00253
NM_001244710.2(GFPT1):c.*2368C>T rs572137795 0.00247
NM_001244710.2(GFPT1):c.*4944A>G rs112572296 0.00246
NM_001244710.2(GFPT1):c.*4274A>T rs142243075 0.00237
NM_001244710.2(GFPT1):c.*3781G>T rs116952694 0.00177
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile) rs190072721 0.00093
NM_001244710.2(GFPT1):c.224-12C>T rs375455794 0.00070
NM_001244710.2(GFPT1):c.*2509A>T rs866089468 0.00055
NM_001244710.2(GFPT1):c.*1425C>T rs781269204 0.00054
NM_001244710.2(GFPT1):c.*5261G>C rs780713952 0.00049
NM_001244710.2(GFPT1):c.*6284G>A rs533940046 0.00044
NM_001244710.2(GFPT1):c.*395C>T rs537215984 0.00035
NM_001244710.2(GFPT1):c.*5353C>T rs575765484 0.00031
NM_001244710.2(GFPT1):c.*454T>G rs796956367 0.00030
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
NM_001244710.2(GFPT1):c.*3576A>G rs150614742 0.00023
NM_001244710.2(GFPT1):c.*3134A>G rs79748218 0.00022
NM_001244710.2(GFPT1):c.*4650A>G rs886056237 0.00022
NM_001244710.2(GFPT1):c.*1461T>G rs146949335 0.00021
NM_001244710.2(GFPT1):c.223+5C>T rs200631666 0.00021
NM_001244710.2(GFPT1):c.*2634C>T rs1002266594 0.00020
NM_001244710.2(GFPT1):c.*2418C>T rs966070692 0.00013
NM_001244710.2(GFPT1):c.*2758G>A rs772432908 0.00013
NM_001244710.2(GFPT1):c.*5325T>G rs867127128 0.00013
NM_001244710.2(GFPT1):c.*2223C>T rs145374217 0.00012
NM_001244710.2(GFPT1):c.*4121A>G rs560298974 0.00011
NM_001244710.2(GFPT1):c.*6102T>G rs950984771 0.00011
NM_001244710.2(GFPT1):c.*5673C>T rs191479634 0.00010
NM_001244710.2(GFPT1):c.*977T>C rs182921837 0.00010
NM_001244710.2(GFPT1):c.*1639A>G rs886056249 0.00009
NM_001244710.2(GFPT1):c.*673A>G rs533310642 0.00009
NM_001244710.2(GFPT1):c.1597+5A>G rs373420002 0.00008
NM_001244710.2(GFPT1):c.*2498A>G rs1015403272 0.00007
NM_001244710.2(GFPT1):c.*3921C>T rs766868319 0.00007
NM_001244710.2(GFPT1):c.*52C>A rs554824301 0.00007
NM_001244710.2(GFPT1):c.*4229A>T rs190736026 0.00006
NM_001244710.2(GFPT1):c.*176C>T rs1428235397 0.00005
NM_001244710.2(GFPT1):c.224-10T>C rs777508704 0.00005
NM_001244710.2(GFPT1):c.*112C>T rs886056258 0.00004
NM_001244710.2(GFPT1):c.*1464A>G rs889572078 0.00004
NM_001244710.2(GFPT1):c.*2325G>A rs886056246 0.00004
NM_001244710.2(GFPT1):c.*2420C>T rs886056245 0.00004
NM_001244710.2(GFPT1):c.*2464C>A rs541938366 0.00004
NM_001244710.2(GFPT1):c.*3385G>A rs886056240 0.00004
NM_001244710.2(GFPT1):c.*4761G>A rs886056236 0.00004
NM_001244710.2(GFPT1):c.*5800G>A rs1247018108 0.00004
NM_001244710.2(GFPT1):c.*689A>G rs886056254 0.00004
NM_001244710.2(GFPT1):c.-153G>A rs886056265 0.00004
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) rs537066687 0.00004
NM_001244710.2(GFPT1):c.*4724A>T rs189919589 0.00003
NM_001244710.2(GFPT1):c.*5448A>G rs1051676273 0.00003
NM_001244710.2(GFPT1):c.*5514G>T rs886056232 0.00003
NM_001244710.2(GFPT1):c.*2410C>T rs914030975 0.00002
NM_001244710.2(GFPT1):c.*2473C>T rs886056244 0.00002
NM_001244710.2(GFPT1):c.*5390T>G rs940728850 0.00002
NM_001244710.2(GFPT1):c.*6126A>G rs886056229 0.00002
NM_001244710.2(GFPT1):c.*635G>A rs1046512995 0.00002
NM_001244710.2(GFPT1):c.*86C>A rs886056259 0.00002
NM_001244710.2(GFPT1):c.*1083A>C rs886056253 0.00001
NM_001244710.2(GFPT1):c.*1738C>A rs557996332 0.00001
NM_001244710.2(GFPT1):c.*1741C>G rs886056248 0.00001
NM_001244710.2(GFPT1):c.*196G>A rs886056256 0.00001
NM_001244710.2(GFPT1):c.*1G>C rs143011449 0.00001
NM_001244710.2(GFPT1):c.*2508A>T rs1208953624 0.00001
NM_001244710.2(GFPT1):c.*2722C>T rs892647803 0.00001
NM_001244710.2(GFPT1):c.*3021T>A rs549806095 0.00001
NM_001244710.2(GFPT1):c.*3438A>G rs575041449 0.00001
NM_001244710.2(GFPT1):c.*3579T>C rs886056239 0.00001
NM_001244710.2(GFPT1):c.*5004G>A rs560585699 0.00001
NM_001244710.2(GFPT1):c.*5713T>C rs1239125022 0.00001
NM_001244710.2(GFPT1):c.-32C>T rs771295091 0.00001
NM_001244710.2(GFPT1):c.-34C>T rs886056262 0.00001
NM_001244710.2(GFPT1):c.1010-10A>G rs753072061 0.00001
NM_001244710.2(GFPT1):c.1203+12T>A rs886056260 0.00001
NM_001244710.2(GFPT1):c.1494C>T (p.Ser498=) rs766223183 0.00001
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=) rs765856240 0.00001
NM_001244710.2(GFPT1):c.*1057G>A rs1670498399
NM_001244710.2(GFPT1):c.*1090G>A rs886056252
NM_001244710.2(GFPT1):c.*1168C>T rs886056251
NM_001244710.2(GFPT1):c.*1401G>A rs868495183
NM_001244710.2(GFPT1):c.*1540A>T rs886056250
NM_001244710.2(GFPT1):c.*1869A>G rs886056247
NM_001244710.2(GFPT1):c.*186G>T rs886056257
NM_001244710.2(GFPT1):c.*1901A>G rs989010524
NM_001244710.2(GFPT1):c.*2017A>G rs1670478208
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.*2323C>T rs1026843260
NM_001244710.2(GFPT1):c.*2622G>A rs1670462400
NM_001244710.2(GFPT1):c.*2720C>T rs886056243
NM_001244710.2(GFPT1):c.*272T>G rs1670519345
NM_001244710.2(GFPT1):c.*2907C>T rs7568674
NM_001244710.2(GFPT1):c.*3019G>T rs886056242
NM_001244710.2(GFPT1):c.*3090G>T rs886056241
NM_001244710.2(GFPT1):c.*3091A>T rs7582334
NM_001244710.2(GFPT1):c.*3287G>A rs1670448736
NM_001244710.2(GFPT1):c.*3345C>G rs73937245
NM_001244710.2(GFPT1):c.*3345C>T rs73937245
NM_001244710.2(GFPT1):c.*3679G>C rs531890221
NM_001244710.2(GFPT1):c.*383T>G rs886056255
NM_001244710.2(GFPT1):c.*4230C>T rs555260998
NM_001244710.2(GFPT1):c.*4375A>G rs1670408570
NM_001244710.2(GFPT1):c.*4520G>C rs886056238
NM_001244710.2(GFPT1):c.*4830A>G rs1670399708
NM_001244710.2(GFPT1):c.*5432G>A rs886056233
NM_001244710.2(GFPT1):c.*5437G>A rs1670383958
NM_001244710.2(GFPT1):c.*5464A>G rs115361740
NM_001244710.2(GFPT1):c.*5476C>T rs921980900
NM_001244710.2(GFPT1):c.*5764A>G rs1670377831
NM_001244710.2(GFPT1):c.*5820C>T rs1670376889
NM_001244710.2(GFPT1):c.*5884A>G rs1670375941
NM_001244710.2(GFPT1):c.*6016C>T rs886056230
NM_001244710.2(GFPT1):c.*6039G>T rs1670373103
NM_001244710.2(GFPT1):c.*6136C>T rs1670370978
NM_001244710.2(GFPT1):c.*6378G>A rs560039272
NM_001244710.2(GFPT1):c.*819T>C rs753245475
NM_001244710.2(GFPT1):c.*870C>A rs77753566
NM_001244710.2(GFPT1):c.-125C>T rs886056263
NM_001244710.2(GFPT1):c.-143G>T rs886056264
NM_001244710.2(GFPT1):c.-80T>C rs568491194
NM_001244710.2(GFPT1):c.116-12A>G rs540758570
NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=) rs1269092915
NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly) rs757328377
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg) rs886056261
NM_001244710.2(GFPT1):c.539A>T (p.Gln180Leu) rs1671390527
NM_001382.4(DPAGT1):c.710G>T (p.Gly237Val)
NM_001382.4(DPAGT1):c.858C>A (p.Phe286Leu)

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.