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
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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 0.00210
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 0.00045
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.*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.*2325G>A rs886056246 0.00010
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.*673A>G rs533310642 0.00009
NM_001244710.2(GFPT1):c.1597+5A>G rs373420002 0.00008
NM_001244710.2(GFPT1):c.*2464C>A rs541938366 0.00007
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.*2420C>T rs886056245 0.00006
NM_001244710.2(GFPT1):c.*4229A>T rs190736026 0.00006
NM_001244710.2(GFPT1):c.*5514G>T rs886056232 0.00006
NM_001244710.2(GFPT1):c.*689A>G rs886056254 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.*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.-153G>A rs886056265 0.00004
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) rs537066687 0.00004
NM_001244710.2(GFPT1):c.*1639A>G rs886056249 0.00003
NM_001244710.2(GFPT1):c.*4724A>T rs189919589 0.00003
NM_001244710.2(GFPT1):c.*5325T>G rs867127128 0.00003
NM_001244710.2(GFPT1):c.*5448A>G rs1051676273 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)

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