ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 12

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Minimum conflict level:
ClinVar version:
Total variants: 504
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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.*6085C>G rs7642 0.66555
NM_001244710.2(GFPT1):c.*2269A>G rs10198171 0.66442
NM_001244710.2(GFPT1):c.*3285A>G rs7579532 0.66160
NM_001244710.2(GFPT1):c.*4059A>G rs13751 0.65899
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.1105+7A>G rs6722492 0.65211
NM_001244710.2(GFPT1):c.*3091A>C rs7582334 0.65184
NM_001244710.2(GFPT1):c.*2669C>T rs10185336 0.64590
NM_001244710.2(GFPT1):c.*4730G>A rs28694003 0.64568
NM_001244710.2(GFPT1):c.7+36T>C rs6720415 0.57447
NM_001244710.2(GFPT1):c.*4826A>C rs67016706 0.12777
NM_001244710.2(GFPT1):c.*5464A>G rs115361740 0.05000
NM_001244710.2(GFPT1):c.*2510A>T rs61159728 0.02339
NM_001244710.2(GFPT1):c.*1244G>T rs73937246 0.02282
NM_001244710.2(GFPT1):c.*6094C>T rs55888680 0.02277
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_001244710.2(GFPT1):c.*2685A>G rs74972420 0.01206
NM_001244710.2(GFPT1):c.*2219C>T rs149217357 0.01194
NM_001244710.2(GFPT1):c.*1085A>G rs75177078 0.01153
NM_001244710.2(GFPT1):c.408+7A>T rs112682152 0.01153
NM_001244710.2(GFPT1):c.*603G>A rs78097440 0.01147
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.*6366T>C rs115964031 0.00633
NM_001244710.2(GFPT1):c.*4403G>T rs148687340 0.00612
NM_001244710.2(GFPT1):c.*2511T>A rs60949141 0.00547
NM_001244710.2(GFPT1):c.*169C>T rs6729690 0.00448
NM_001244710.2(GFPT1):c.*6003G>T rs143649075 0.00416
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.*867G>A rs72905155 0.00367
NM_001244710.2(GFPT1):c.*2364C>T rs182934478 0.00354
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 0.00238
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=) rs144566433 0.00230
NM_001244710.2(GFPT1):c.*4274A>T rs142243075 0.00228
NM_001244710.2(GFPT1):c.*4944A>G rs112572296 0.00228
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.7+20G>T rs373299682 0.00082
NM_001244710.2(GFPT1):c.224-12C>T rs375455794 0.00070
NM_001244710.2(GFPT1):c.*1425C>T rs781269204 0.00055
NM_001244710.2(GFPT1):c.*2509A>T rs866089468 0.00050
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.*3576A>G rs150614742 0.00036
NM_001244710.2(GFPT1):c.*3134A>G rs79748218 0.00035
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.*1461T>G rs146949335 0.00030
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.99A>G (p.Arg33=) rs146463758 0.00027
NM_001244710.2(GFPT1):c.408+19A>G rs201470680 0.00026
NM_001244710.2(GFPT1):c.*4650A>G rs886056237 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.*52C>A rs554824301 0.00020
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=) rs369055649 0.00020
NM_001244710.2(GFPT1):c.*977T>C rs182921837 0.00019
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_001244710.2(GFPT1):c.*5673C>T rs191479634 0.00015
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr) rs142871135 0.00014
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln) rs555854564 0.00014
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.*2418C>T rs966070692 0.00012
NM_001244710.2(GFPT1):c.1483-11T>G rs147573852 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.124T>G (p.Phe42Val) rs948398303 0.00011
NM_001244710.2(GFPT1):c.*1639A>G rs886056249 0.00009
NM_001244710.2(GFPT1):c.*4229A>T rs190736026 0.00009
NM_001244710.2(GFPT1):c.*673A>G rs533310642 0.00009
NM_001244710.2(GFPT1):c.1725+14G>A rs201672242 0.00009
NM_001244710.2(GFPT1):c.739+6A>G rs542110221 0.00009
NM_001244710.2(GFPT1):c.*1738C>A rs557996332 0.00008
NM_001244710.2(GFPT1):c.*2508A>T rs1208953624 0.00008
NM_001244710.2(GFPT1):c.1597+5A>G rs373420002 0.00008
NM_001244710.2(GFPT1):c.224-11A>G rs747353279 0.00008
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys) rs536572222 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.362T>C (p.Ile121Thr) rs753866967 0.00007
NM_001244710.2(GFPT1):c.845+7T>C rs371199882 0.00007
NM_001244710.2(GFPT1):c.*176C>T rs1428235397 0.00006
NM_001244710.2(GFPT1):c.*4761G>A rs886056236 0.00006
NM_001244710.2(GFPT1):c.1035G>A (p.Lys345=) rs373488949 0.00006
NM_001244710.2(GFPT1):c.1894-9C>T rs765467067 0.00006
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys) rs143036820 0.00006
NM_001244710.2(GFPT1):c.*1464A>G rs889572078 0.00005
NM_001244710.2(GFPT1):c.*3385G>A rs886056240 0.00005
NM_001244710.2(GFPT1):c.1483-10G>A rs370154902 0.00005
NM_001244710.2(GFPT1):c.2040G>A (p.Val680=) rs538218189 0.00005
NM_001244710.2(GFPT1):c.54A>G (p.Glu18=) rs199770054 0.00005
NM_001244710.2(GFPT1):c.7+11C>T rs377517698 0.00005
NM_001244710.2(GFPT1):c.739+11C>T rs576618872 0.00005
NM_001244710.2(GFPT1):c.*112C>T rs886056258 0.00004
NM_001244710.2(GFPT1):c.*2410C>T rs914030975 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.*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.1041A>T (p.Ile347=) rs772941507 0.00004
NM_001244710.2(GFPT1):c.1324+3G>A rs367865496 0.00004
NM_001244710.2(GFPT1):c.224-10T>C rs777508704 0.00004
NM_001244710.2(GFPT1):c.768C>T (p.Leu256=) rs141520017 0.00004
NM_001244710.2(GFPT1):c.845+18A>C rs373520133 0.00004
NM_001244710.2(GFPT1):c.870C>T (p.Arg290=) rs754486756 0.00004
NM_001244710.2(GFPT1):c.*2325G>A rs886056246 0.00003
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.1010-10A>G rs753072061 0.00003
NM_001244710.2(GFPT1):c.224-18T>G rs1216421526 0.00003
NM_001244710.2(GFPT1):c.429C>T (p.Phe143=) rs1207796251 0.00003
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=) rs759065498 0.00003
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp) rs770856462 0.00003
NM_001244710.2(GFPT1):c.685+15A>G rs754593037 0.00003
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp) rs779427303 0.00003
NM_001244710.2(GFPT1):c.740-7G>A rs1389698795 0.00003
NM_001244710.2(GFPT1):c.846-14T>C rs373534126 0.00003
NM_001244710.2(GFPT1):c.960C>T (p.Pro320=) rs140814934 0.00003
NM_001244710.2(GFPT1):c.*2473C>T rs886056244 0.00002
NM_001244710.2(GFPT1):c.*5004G>A rs560585699 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.1458T>G (p.Pro486=) rs370693172 0.00002
NM_001244710.2(GFPT1):c.1482+16A>G rs376276502 0.00002
NM_001244710.2(GFPT1):c.1726-9T>C rs757234942 0.00002
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=) rs200986371 0.00002
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met) rs372725563 0.00002
NM_001244710.2(GFPT1):c.1894-14A>G rs775899275 0.00002
NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=) rs368308347 0.00002
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) rs537066687 0.00002
NM_001244710.2(GFPT1):c.33T>C (p.His11=) rs373396551 0.00002
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) rs751097758 0.00002
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=) rs759431850 0.00002
NM_001244710.2(GFPT1):c.585C>T (p.Pro195=) rs764483590 0.00002
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val) rs1463544616 0.00002
NM_001244710.2(GFPT1):c.740-16T>A rs749648987 0.00002
NM_001244710.2(GFPT1):c.*1083A>C rs886056253 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.*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.*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.-80T>C rs568491194 0.00001
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn) rs1285177343 0.00001
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile) rs1671069814 0.00001
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met) rs1671069741 0.00001
NM_001244710.2(GFPT1):c.1106-9T>C rs1214878487 0.00001
NM_001244710.2(GFPT1):c.115+17A>G rs562949588 0.00001
NM_001244710.2(GFPT1):c.116-19T>C rs199690350 0.00001
NM_001244710.2(GFPT1):c.116-6G>A rs762154144 0.00001
NM_001244710.2(GFPT1):c.1188C>T (p.Tyr396=) rs1161440351 0.00001
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu) rs1247230551 0.00001
NM_001244710.2(GFPT1):c.1203+12T>A rs886056260 0.00001
NM_001244710.2(GFPT1):c.1204-13A>G rs1670859146 0.00001
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=) rs1168233879 0.00001
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=) rs759523230 0.00001
NM_001244710.2(GFPT1):c.12A>T (p.Ile4=) rs755742507 0.00001
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=) rs2104616321 0.00001
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala) rs1287808167 0.00001
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser) rs914867145 0.00001
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser) rs567402654 0.00001
NM_001244710.2(GFPT1):c.1483-8T>C rs569347921 0.00001
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser) rs1438504838 0.00001
NM_001244710.2(GFPT1):c.1494C>T (p.Ser498=) rs766223183 0.00001
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile) rs1279403583 0.00001
NM_001244710.2(GFPT1):c.1526T>C (p.Met509Thr) rs1558728601 0.00001
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys) rs1421146245 0.00001
NM_001244710.2(GFPT1):c.1597+11A>C rs778286888 0.00001
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala) rs988021644 0.00001
NM_001244710.2(GFPT1):c.1611A>G (p.Glu537=) rs768171205 0.00001
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr) rs1308915445 0.00001
NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=) rs560164376 0.00001
NM_001244710.2(GFPT1):c.1726-5A>G rs369509093 0.00001
NM_001244710.2(GFPT1):c.1845C>T (p.His615=) rs756332941 0.00001
NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=) rs377155851 0.00001
NM_001244710.2(GFPT1):c.1869T>C (p.Ala623=) rs764520856 0.00001
NM_001244710.2(GFPT1):c.1893+7C>T rs375872036 0.00001
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg) rs772640415 0.00001
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala) rs772026265 0.00001
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn) rs368208403 0.00001
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=) rs765856240 0.00001
NM_001244710.2(GFPT1):c.2043G>C (p.Leu681=) rs766101867 0.00001
NM_001244710.2(GFPT1):c.2055+3A>G rs937857366 0.00001
NM_001244710.2(GFPT1):c.2079C>T (p.Ala693=) rs754236476 0.00001
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly) rs530830788 0.00001
NM_001244710.2(GFPT1):c.223+19T>C rs532780798 0.00001
NM_001244710.2(GFPT1):c.223+6G>A rs1295165260 0.00001
NM_001244710.2(GFPT1):c.224-20T>C rs369469638 0.00001
NM_001244710.2(GFPT1):c.224-9A>G rs1207347337 0.00001
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly) rs192925673 0.00001
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly) rs755890938 0.00001
NM_001244710.2(GFPT1):c.306C>G (p.Pro102=) rs763230648 0.00001
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) rs189717232 0.00001
NM_001244710.2(GFPT1):c.350-3T>C rs1671414851 0.00001
NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg) rs1458049542 0.00001
NM_001244710.2(GFPT1):c.408+15C>T rs1357797263 0.00001
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=) rs775046657 0.00001
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=) rs763874345 0.00001
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His) rs987906924 0.00001
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln) rs1034928233 0.00001
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu) rs773850508 0.00001
NM_001244710.2(GFPT1):c.606-3C>T rs1286081479 0.00001
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val) rs1489383761 0.00001
NM_001244710.2(GFPT1):c.685+18A>G rs753449447 0.00001
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00001
NM_001244710.2(GFPT1):c.686-8A>G rs747052866 0.00001
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer) rs1380136176 0.00001
NM_001244710.2(GFPT1):c.719G>A (p.Trp240Ter) rs1574066341 0.00001
NM_001244710.2(GFPT1):c.740-20A>G rs376729329 0.00001
NM_001244710.2(GFPT1):c.801G>A (p.Pro267=) rs752515655 0.00001
NM_001244710.2(GFPT1):c.845+13A>G rs1287723106 0.00001
NM_001244710.2(GFPT1):c.845+6C>T rs767647134 0.00001
NM_001244710.2(GFPT1):c.846-17C>G rs778736909 0.00001
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys) rs764200601 0.00001
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter) rs375268742 0.00001
NC_000002.11:g.(?_69553299)_(69597260_?)dup
NC_000002.11:g.(?_69553299)_(69614213_?)del
NC_000002.11:g.(?_69553299)_(69614213_?)dup
NC_000002.11:g.(?_69573016)_(69575486_?)del
NC_000002.11:g.(?_69583608)_(69583709_?)del
NC_000002.11:g.(?_69597123)_(69597250_?)del
NC_000002.12:g.(?_69363535)_(69363680_?)del
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.*22C>T 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.*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.1003A>T (p.Met335Leu)
NM_001244710.2(GFPT1):c.1009+17T>A rs2466076799
NM_001244710.2(GFPT1):c.1010-11T>C
NM_001244710.2(GFPT1):c.1010-2A>G
NM_001244710.2(GFPT1):c.1056G>A (p.Glu352=)
NM_001244710.2(GFPT1):c.1072A>G (p.Met358Val)
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile) rs2466069043
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu) rs2466069022
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly) rs2466169470
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=) rs2104631088
NM_001244710.2(GFPT1):c.1096G>T (p.Asp366Tyr) rs1574058076
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=) rs1458911769
NM_001244710.2(GFPT1):c.1105+1G>A rs1553389102
NM_001244710.2(GFPT1):c.1105+7A>T rs6722492
NM_001244710.2(GFPT1):c.1106-1G>T rs1670970306
NM_001244710.2(GFPT1):c.1106-7A>C
NM_001244710.2(GFPT1):c.115+15A>G rs1401182899
NM_001244710.2(GFPT1):c.115+15dup rs758929556
NM_001244710.2(GFPT1):c.115+16T>A
NM_001244710.2(GFPT1):c.115+16T>C
NM_001244710.2(GFPT1):c.115+20A>G rs1356240389
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln) rs1670968909
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser) rs1671812593
NM_001244710.2(GFPT1):c.116-12A>G rs540758570
NM_001244710.2(GFPT1):c.116-6G>C rs762154144
NM_001244710.2(GFPT1):c.116G>A (p.Gly39Asp)
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala) rs1553388425
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly) rs1553388422
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe) rs1553388418
NM_001244710.2(GFPT1):c.1204-13_1204-11dup rs1178377880
NM_001244710.2(GFPT1):c.1204-19A>G
NM_001244710.2(GFPT1):c.1204-3C>T rs1307653021
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=) rs1339146756
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val) rs1670858310
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser) rs2104617186
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=) rs1574080849
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs) rs2104617143
NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter) rs1670857628
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile) rs766450555
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu) rs766450555
NM_001244710.2(GFPT1):c.1320A>G (p.Gln440=) rs1196976693
NM_001244710.2(GFPT1):c.1324+10_1324+15del rs777934882
NM_001244710.2(GFPT1):c.1324+13del rs113734896
NM_001244710.2(GFPT1):c.1324+9A>C rs2466048480
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=) rs968995023
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu) rs2466046780
NM_001244710.2(GFPT1):c.134G>A (p.Gly45Asp) rs2466152893
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup) rs1558773904
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys) rs759081713
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del) rs2466046748
NM_001244710.2(GFPT1):c.1363A>G (p.Lys455Glu)
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu) rs2466046634
NM_001244710.2(GFPT1):c.1410T>C (p.Ser470=)
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe) rs1670840972
NM_001244710.2(GFPT1):c.1416A>G (p.Ile472Met) rs2466046558
NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=) rs1269092915
NM_001244710.2(GFPT1):c.1455T>G (p.Gly485=) rs2466046420
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr) rs770302575
NM_001244710.2(GFPT1):c.1473C>G (p.Ala491=)
NM_001244710.2(GFPT1):c.1483-13del rs372548032
NM_001244710.2(GFPT1):c.1483-18T>C rs2466023146
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser) rs1670617199
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn) rs1553386276
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp) rs2104600845
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=) rs767370476
NM_001244710.2(GFPT1):c.1547C>T (p.Ser516Phe) rs2466022802
NM_001244710.2(GFPT1):c.1554A>G (p.Gln518=)
NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=) rs1670615656
NM_001244710.2(GFPT1):c.1588C>T (p.Arg530Trp) rs1024585946
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser) rs1419345793
NM_001244710.2(GFPT1):c.1597+15dup rs2104600661
NM_001244710.2(GFPT1):c.1598-16T>A rs2466021571
NM_001244710.2(GFPT1):c.1598-5C>A rs748509856
NM_001244710.2(GFPT1):c.1598-8C>T rs772627608
NM_001244710.2(GFPT1):c.1644A>G (p.Leu548=) rs2104600073
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu) rs2466020843
NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly) rs757328377
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter) rs757328377
NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=) rs1185429894
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro) rs2466020720
NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=) rs2104599962
NM_001244710.2(GFPT1):c.1725+14G>C rs201672242
NM_001244710.2(GFPT1):c.1726-16G>C rs745364459
NM_001244710.2(GFPT1):c.1746T>C (p.Tyr582=)
NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=) rs148545545
NM_001244710.2(GFPT1):c.1791T>C (p.Pro597=) rs777476790
NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=) rs2466017118
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly) rs766622631
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter) rs377155851
NM_001244710.2(GFPT1):c.1854C>G (p.Ala618=)
NM_001244710.2(GFPT1):c.1869T>G (p.Ala623=) rs764520856
NM_001244710.2(GFPT1):c.1894-19G>C
NM_001244710.2(GFPT1):c.1894-9C>G rs765467067
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln) rs2104595615
NM_001244710.2(GFPT1):c.1905G>A (p.Val635=) rs1558725033
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly) rs1670547736
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val) rs1553385828
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val) rs1574039131
NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=) rs1475846025
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg) rs781377676
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met) rs781377676
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg) rs2104595457
NM_001244710.2(GFPT1):c.197_201del (p.Val66fs) rs1558773839
NM_001244710.2(GFPT1):c.1984T>C (p.Leu662=) rs1370889713
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro) rs1670545826
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe) rs2104595390
NM_001244710.2(GFPT1):c.2016G>A (p.Gln672=) rs2466012257
NM_001244710.2(GFPT1):c.2031C>T (p.His677=) rs2104595358
NM_001244710.2(GFPT1):c.2056-10C>T rs201931307
NM_001244710.2(GFPT1):c.2056-10_2056-9del rs778019023
NM_001244710.2(GFPT1):c.2056-11del rs201268947
NM_001244710.2(GFPT1):c.2056-11dup rs201268947
NM_001244710.2(GFPT1):c.2056-12_2056-11del rs201268947
NM_001244710.2(GFPT1):c.2056-4G>T rs779562812
NM_001244710.2(GFPT1):c.2056-9T>G rs2466009721
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=) rs138932195
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro) rs1671705543
NM_001244710.2(GFPT1):c.222C>G (p.His74Gln)
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs) rs1671535986
NM_001244710.2(GFPT1):c.228A>G (p.Gln76=) rs771855290
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly) rs1671535131
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val) rs1480831620
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys) rs2466129139
NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys) rs1553393940
NM_001244710.2(GFPT1):c.305C>A (p.Pro102His) rs1574074621
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg) rs1574074621
NM_001244710.2(GFPT1):c.313G>C (p.Val105Leu)
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly) rs929836832
NM_001244710.2(GFPT1):c.327C>G (p.Pro109=)
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg) rs886056261
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly) rs1671532532
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly) rs539052842
NM_001244710.2(GFPT1):c.349+17dup rs780939646
NM_001244710.2(GFPT1):c.350-17A>T
NM_001244710.2(GFPT1):c.350-4_350-3del rs779152034
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=) rs1671414660
NM_001244710.2(GFPT1):c.357C>T (p.Ile119=)
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser) rs1671414273
NM_001244710.2(GFPT1):c.376A>T (p.Ile126Phe)
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=) rs761321362
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe) rs1030501919
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val) rs2466115925
NM_001244710.2(GFPT1):c.408+11T>C rs2466115859
NM_001244710.2(GFPT1):c.408+12G>C rs1671412951
NM_001244710.2(GFPT1):c.408+12G>T rs1671412951
NM_001244710.2(GFPT1):c.408+14C>T rs1671412905
NM_001244710.2(GFPT1):c.408+30T>C rs67760762
NM_001244710.2(GFPT1):c.408+5G>A rs1558762013
NM_001244710.2(GFPT1):c.408+9G>A rs2466115876
NM_001244710.2(GFPT1):c.409-15del rs753279036
NM_001244710.2(GFPT1):c.412A>T (p.Ser138Cys)
NM_001244710.2(GFPT1):c.41G>T (p.Arg14Leu) rs922548333
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=) rs1671392979
NM_001244710.2(GFPT1):c.43A>G (p.Thr15Ala) rs387906638
NM_001244710.2(GFPT1):c.452C>A (p.Thr151Lys) rs1558761046
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg) rs769251120
NM_001244710.2(GFPT1):c.468T>G (p.Val156=) rs2466113172
NM_001244710.2(GFPT1):c.489G>A (p.Arg163=)
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly) rs2104655675
NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly) rs2104655632
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_001244710.2(GFPT1):c.539A>T (p.Gln180Leu) rs1671390527
NM_001244710.2(GFPT1):c.541T>A (p.Leu181Met)
NM_001244710.2(GFPT1):c.543+7A>C
NM_001244710.2(GFPT1):c.544-11T>C rs1671343843
NM_001244710.2(GFPT1):c.544-11dup rs1242206987
NM_001244710.2(GFPT1):c.544-6C>T rs2466106538
NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser) rs2466106463
NM_001244710.2(GFPT1):c.55A>G (p.Ile19Val)
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg) rs370171865
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu) rs1201087895
NM_001244710.2(GFPT1):c.590A>G (p.Gln197Arg)
NM_001244710.2(GFPT1):c.597T>C (p.Val199=) rs2104652107
NM_001244710.2(GFPT1):c.606-19C>T rs1380591110
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp) rs2104648108
NM_001244710.2(GFPT1):c.621del (p.Leu207_Leu208insTer) rs1574066599
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu) rs1671287962
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=) rs2104648039
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg) rs1200732185
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val) rs2104648017
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro) rs2466100359
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala) rs2466100348
NM_001244710.2(GFPT1):c.669T>C (p.Pro223=) rs903308197
NM_001244710.2(GFPT1):c.686-12G>A rs771184453
NM_001244710.2(GFPT1):c.686-15G>A rs1322726078
NM_001244710.2(GFPT1):c.686-18dup rs762696806
NM_001244710.2(GFPT1):c.686-1G>A rs2104647624
NM_001244710.2(GFPT1):c.686-1_686delinsAA
NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val) rs2104647589
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp) rs1164347284
NM_001244710.2(GFPT1):c.7+18G>C
NM_001244710.2(GFPT1):c.7+20G>A
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs) rs1671280764
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs) rs1553390600
NM_001244710.2(GFPT1):c.739+19A>G rs1335194019
NM_001244710.2(GFPT1):c.740-11A>G rs769311395
NM_001244710.2(GFPT1):c.740-8T>C rs2104639173
NM_001244710.2(GFPT1):c.741dup (p.Lys248fs) rs2466082798
NM_001244710.2(GFPT1):c.762C>A (p.Cys254Ter)
NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs) rs2104639109
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly) rs2104639027
NM_001244710.2(GFPT1):c.834T>C (p.Ala278=) rs2466082357
NM_001244710.2(GFPT1):c.845+15T>C
NM_001244710.2(GFPT1):c.845+15T>G rs1671169964
NM_001244710.2(GFPT1):c.846-13G>A rs1481060849
NM_001244710.2(GFPT1):c.854_855del (p.Ile285fs)
NM_001244710.2(GFPT1):c.876C>T (p.Ile292=) rs2466077401
NM_001244710.2(GFPT1):c.87A>G (p.Arg29=)
NM_001244710.2(GFPT1):c.897T>C (p.Val299=) rs2104635977
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs) rs1671813157
NM_001244710.2(GFPT1):c.902C>G (p.Ala301Gly) rs372840289
NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val) rs372840289
NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala) rs2104635949
NM_001244710.2(GFPT1):c.929A>T (p.His310Leu) rs1553389515
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter) rs2104635880
NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg) rs980858770
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp) rs1671813015
NM_001244710.2(GFPT1):c.948A>G (p.Ala316=) rs2466077139
NM_001244710.2(GFPT1):c.957C>T (p.His319=) rs1574060474
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter) rs1558749457
NM_005245.4(FAT1):c.2600_2601del (p.Thr867fs) rs1579484850

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.