ClinVar Miner

List of variants reported as uncertain significance for congenital myasthenic syndrome with tubular aggregates

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 505
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HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.*2510A>T rs61159728 0.02619
NM_001244710.2(GFPT1):c.*169C>T rs6729690 0.00459
NM_001244710.2(GFPT1):c.*666T>C rs543343212 0.00376
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.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_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_001244710.2(GFPT1):c.*1425C>T rs781269204 0.00054
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 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_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_001244710.2(GFPT1):c.*3576A>G rs150614742 0.00023
NM_001244710.2(GFPT1):c.*4650A>G rs886056237 0.00022
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr) rs140382423 0.00022
NM_001244710.2(GFPT1):c.*1461T>G rs146949335 0.00021
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069 0.00021
NM_001244710.2(GFPT1):c.*2634C>T rs1002266594 0.00020
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe) rs150532554 0.00019
NM_033087.4(ALG2):c.399C>G (p.Ile133Met) rs371772900 0.00019
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr) rs142871135 0.00015
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln) rs555854564 0.00014
NM_033087.4(ALG2):c.217G>C (p.Asp73His) rs375634924 0.00014
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.124T>G (p.Phe42Val) rs948398303 0.00012
NM_001382.4(DPAGT1):c.496+3A>G rs565154071 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_033087.4(ALG2):c.232G>C (p.Gly78Arg) rs1054683823 0.00010
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg) rs1016844949 0.00009
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln) rs369231996 0.00009
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile) rs373454393 0.00009
NM_001244710.2(GFPT1):c.1597+5A>G rs373420002 0.00008
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys) rs536572222 0.00008
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln) rs143625172 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.362T>C (p.Ile121Thr) rs753866967 0.00007
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn) rs542516384 0.00007
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr) rs763662395 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.229C>A (p.Gln77Lys) rs143036820 0.00006
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe) rs751590922 0.00006
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly) rs752153404 0.00006
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu) rs754476664 0.00006
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly) rs369670496 0.00006
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro) rs1279623882 0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe) rs147346291 0.00006
NM_001244710.2(GFPT1):c.*176C>T rs1428235397 0.00005
NM_001244710.2(GFPT1):c.1324+3G>A rs367865496 0.00005
NM_001244710.2(GFPT1):c.224-10T>C rs777508704 0.00005
NM_033087.4(ALG2):c.368T>C (p.Val123Ala) rs762560638 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_001382.4(DPAGT1):c.728+6T>C rs373170483 0.00004
NM_033087.4(ALG2):c.1156A>G (p.Met386Val) rs772649099 0.00004
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His) rs376959842 0.00004
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp) rs761793563 0.00004
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys) rs1372670324 0.00004
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys) rs1156439417 0.00004
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp) rs780287266 0.00004
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser) rs925393788 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.715C>T (p.Arg239Trp) rs779427303 0.00003
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys) rs1329170357 0.00003
NM_033087.4(ALG2):c.1A>G (p.Met1Val) rs750172644 0.00003
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp) rs934545988 0.00003
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp) rs752081241 0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 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.1878A>G (p.Gln626=) rs200986371 0.00002
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met) rs372725563 0.00002
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val) rs1463544616 0.00002
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln) rs747825322 0.00002
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu) rs764519878 0.00002
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu) rs751806317 0.00002
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) rs772211450 0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001382.4(DPAGT1):c.917+6C>T rs539220035 0.00002
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp) rs780497256 0.00002
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr) rs138258236 0.00002
NM_033087.4(ALG2):c.1218G>C (p.Gln406His) rs763754023 0.00002
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu) rs777441526 0.00002
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln) rs776974668 0.00002
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp) rs376627887 0.00002
NM_033087.4(ALG2):c.361A>G (p.Ile121Val) rs774204697 0.00002
NM_033087.4(ALG2):c.752G>A (p.Arg251His) rs201729325 0.00002
NM_033087.4(ALG2):c.784G>T (p.Val262Phe) rs1229029511 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.1001T>A (p.Ile334Asn) rs1285177343 0.00001
NM_001244710.2(GFPT1):c.1010-10A>G rs753072061 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.133G>A (p.Gly45Ser) rs914867145 0.00001
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys) rs759081713 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.1610A>C (p.Glu537Ala) rs988021644 0.00001
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr) rs1308915445 0.00001
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg) rs772640415 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.2055+3A>G rs937857366 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.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.883G>A (p.Glu295Lys) rs764200601 0.00001
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe) rs376996734 0.00001
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val) rs555841797 0.00001
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg) rs1301940016 0.00001
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter) rs187919120 0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile) rs779911586 0.00001
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe) rs1272156856 0.00001
NM_001382.4(DPAGT1):c.161+6C>T rs762402071 0.00001
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg) rs1041735569 0.00001
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp) rs1234809605 0.00001
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg) rs759595271 0.00001
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln) rs368415403 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val) rs532412952 0.00001
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser) rs1229553796 0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys) rs762796464 0.00001
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu) rs1328286236 0.00001
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg) rs775716973 0.00001
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=) rs373632825 0.00001
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp) rs1053302601 0.00001
NM_001382.4(DPAGT1):c.729-10C>A rs1413156382 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val) rs376322200 0.00001
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys) rs776632995 0.00001
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu) rs544811110 0.00001
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln) rs1828726794 0.00001
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu) rs1828725925 0.00001
NM_033087.4(ALG2):c.107C>T (p.Ala36Val) rs567637718 0.00001
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu) rs754159662 0.00001
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val) rs762887574 0.00001
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly) rs963221673 0.00001
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn) rs1475354932 0.00001
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu) rs749613639 0.00001
NM_033087.4(ALG2):c.168G>A (p.Pro56=) rs1225254115 0.00001
NM_033087.4(ALG2):c.202G>A (p.Val68Met) rs770103603 0.00001
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu) rs755705607 0.00001
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser) rs941593352 0.00001
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser) rs910168958 0.00001
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro) rs770722154 0.00001
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla) rs762654045 0.00001
NM_033087.4(ALG2):c.30del (p.Ser11fs) rs763575022 0.00001
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln) rs1025210566 0.00001
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile) rs752746581 0.00001
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu) rs746092484 0.00001
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp) rs1486842886 0.00001
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro) rs759789517 0.00001
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile) rs1166295828 0.00001
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly) rs745514949 0.00001
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter) rs139547697 0.00001
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys) rs189167741 0.00001
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile) rs766853240 0.00001
NM_033087.4(ALG2):c.76G>A (p.Val26Met) rs1280699944 0.00001
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro) rs202053471 0.00001
NM_033087.4(ALG2):c.947C>T (p.Thr316Met) rs764242401 0.00001
NC_000002.11:g.(?_69553299)_(69597260_?)dup
NC_000002.11:g.(?_69553299)_(69614213_?)dup
NC_000002.11:g.(?_69597123)_(69597250_?)del
NC_000009.11:g.(?_100190748)_(103062956_?)dup
NC_000011.9:g.(?_118967698)_(119170501_?)dup
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.*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.*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.-125C>T rs886056263
NM_001244710.2(GFPT1):c.-143G>T rs886056264
NM_001244710.2(GFPT1):c.-80T>C rs568491194
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
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.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.1204-3C>T rs1307653021
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.1309T>A (p.Phe437Ile) rs766450555
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu) rs766450555
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala) rs1287808167
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
NM_001244710.2(GFPT1):c.134G>A (p.Gly45Asp)
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup) rs1558773904
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe) rs1670840972
NM_001244710.2(GFPT1):c.1416A>G (p.Ile472Met)
NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=) rs1269092915
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
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.1547C>T (p.Ser516Phe)
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys) rs1421146245
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)
NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly) rs757328377
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln) rs2104595615
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.1927A>G (p.Thr643Ala) rs772026265
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val) rs1574039131
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.1997T>C (p.Leu666Pro) rs1670545826
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe) rs2104595390
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro) rs1671705543
NM_001244710.2(GFPT1):c.223+6G>A rs1295165260
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly) rs1671535131
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)
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.314T>G (p.Val105Gly) rs929836832
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.350-3T>C
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser) rs1671414273
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
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.547G>A (p.Gly183Ser)
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg) rs370171865
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp) rs2104648108
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu) rs1671287962
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val) rs2104648017
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)
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.740-11A>G rs769311395
NM_001244710.2(GFPT1):c.740-8T>C rs2104639173
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly) rs2104639027
NM_001244710.2(GFPT1):c.845+6C>T rs767647134
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.938A>G (p.Lys313Arg)
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp) rs1671813015
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr) rs1946418638
NM_001382.4(DPAGT1):c.1005+5C>T
NM_001382.4(DPAGT1):c.1005+6A>T rs1592225596
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys) rs1475939080
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val) rs980077282
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser) rs1210999092
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser) rs2134897889
NM_001382.4(DPAGT1):c.1161+5G>A rs1946410970
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu) rs2134897349
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro) rs2134897273
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn) rs2134897091
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr) rs1274896616
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys) rs781224323
NM_001382.4(DPAGT1):c.271C>T (p.Pro91Ser) rs2134915769
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
NM_001382.4(DPAGT1):c.283-17G>A
NM_001382.4(DPAGT1):c.283-3C>A
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val) rs1946489072
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val) rs1946487222
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu) rs2134913441
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile) rs1946487020
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser) rs373044813
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln) rs1946485389
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val) rs766131005
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser) rs768464558
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val) rs2134911057
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu) rs1386440899
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser) rs1221039307
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala) rs2134903441
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
NM_001382.4(DPAGT1):c.710G>T (p.Gly237Val)
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe) rs765676413
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
NM_001382.4(DPAGT1):c.750G>A (p.Val250=) rs2134901634
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp) rs780944148
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
NM_001382.4(DPAGT1):c.858C>A (p.Phe286Leu)
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe) rs1946426502
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser) rs1393162163
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His) rs771322037
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
NM_001382.4(DPAGT1):c.918-10C>A rs764154648
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly) rs1946419999
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
NM_033087.4(ALG2):c.1014G>T (p.Gln338His) rs2118998218
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr) rs2118998170
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu) rs1588618702
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr) rs1828724423
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala) rs1340353164
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs) rs2118997596
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter) rs372356780
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
NM_033087.4(ALG2):c.132del (p.Cys45fs)
NM_033087.4(ALG2):c.145A>G (p.Ile49Val) rs759980920
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter) rs748281785
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg) rs773062290
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys) rs753517894
NM_033087.4(ALG2):c.17G>T (p.Gly6Val) rs180849348
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu) rs777441526
NM_033087.4(ALG2):c.182C>T (p.Ala61Val) rs1588620643
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly) rs551744220
NM_033087.4(ALG2):c.212C>T (p.Ala71Val) rs551744220
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg) rs745813432
NM_033087.4(ALG2):c.215G>T (p.Gly72Val) rs770738799
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr) rs375634924
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro) rs1564222174
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup) rs1050763044
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup) rs759891618
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn) rs769169852
NM_033087.4(ALG2):c.308del (p.Phe103fs)
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly) rs747781559
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu) rs2119008980
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg) rs2119007195
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
NM_033087.4(ALG2):c.367G>A (p.Val123Met) rs1828745406
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
NM_033087.4(ALG2):c.442_443del (p.Asp148fs) rs1828743411
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr) rs1350412580
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln) rs757920586
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp) rs1486842886
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala) rs1588619067
NM_033087.4(ALG2):c.507G>A (p.Met169Ile) rs779723777
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter) rs1828741342
NM_033087.4(ALG2):c.519C>G (p.Ile173Met) rs1372608210
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
NM_033087.4(ALG2):c.578A>G (p.His193Arg) rs749336918
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser) rs201271253
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer) rs745635377
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile) rs1828737709
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu) rs866855594
NM_033087.4(ALG2):c.679C>A (p.Leu227Met) rs1308983324
NM_033087.4(ALG2):c.679C>G (p.Leu227Val) rs1308983324
NM_033087.4(ALG2):c.686T>A (p.Leu229His) rs1828737491
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys) rs777262456
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
NM_033087.4(ALG2):c.760T>G (p.Leu254Val) rs62562374
NM_033087.4(ALG2):c.795C>G (p.Ile265Met) rs183416022
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
NM_033087.4(ALG2):c.839A>G (p.His280Arg) rs2118998777
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
NM_033087.4(ALG2):c.89_114del (p.Glu30fs) rs775204090
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
NM_033087.4(ALG2):c.945C>T (p.Cys315=) rs1828729293
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys) rs1828728819
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys) rs2118998416
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
NM_033087.4(ALG2):c.97G>A (p.Val33Met) rs774607653
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)

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.