ClinVar Miner

List of variants in gene GFPT1 reported as likely benign for congenital myasthenic syndrome with tubular aggregates

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
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.*2428G>A rs191588030 0.00321
NM_001244710.2(GFPT1):c.*1053G>A rs535434783 0.00308
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.1882G>A (p.Val628Ile) rs190072721 0.00093
NM_001244710.2(GFPT1):c.7+20G>T rs373299682 0.00088
NM_001244710.2(GFPT1):c.99A>G (p.Arg33=) rs146463758 0.00028
NM_001244710.2(GFPT1):c.408+19A>G rs201470680 0.00026
NM_001244710.2(GFPT1):c.*3134A>G rs79748218 0.00022
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=) rs369055649 0.00021
NM_001244710.2(GFPT1):c.223+5C>T rs200631666 0.00021
NM_001244710.2(GFPT1):c.1483-11T>G rs147573852 0.00013
NM_001244710.2(GFPT1):c.*673A>G rs533310642 0.00009
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=) rs775046657 0.00009
NM_001244710.2(GFPT1):c.1483-8T>C rs569347921 0.00007
NM_001244710.2(GFPT1):c.739+6A>G rs542110221 0.00007
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.54A>G (p.Glu18=) rs199770054 0.00006
NM_001244710.2(GFPT1):c.845+7T>C rs371199882 0.00006
NM_001244710.2(GFPT1):c.739+11C>T rs576618872 0.00005
NM_001244710.2(GFPT1):c.1041A>T (p.Ile347=) rs772941507 0.00004
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) rs537066687 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.429C>T (p.Phe143=) rs1207796251 0.00003
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=) rs759065498 0.00003
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=) rs759431850 0.00003
NM_001244710.2(GFPT1):c.685+15A>G rs754593037 0.00003
NM_001244710.2(GFPT1):c.686-8A>G rs747052866 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.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.1894-14A>G rs775899275 0.00002
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=) rs763874345 0.00002
NM_001244710.2(GFPT1):c.585C>T (p.Pro195=) rs764483590 0.00002
NM_001244710.2(GFPT1):c.740-16T>A rs749648987 0.00002
NM_001244710.2(GFPT1):c.1010-10A>G rs753072061 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.1597+11A>C rs778286888 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.1893+7C>T rs375872036 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.2079C>T (p.Ala693=) rs754236476 0.00001
NM_001244710.2(GFPT1):c.223+19T>C rs532780798 0.00001
NM_001244710.2(GFPT1):c.224-9A>G rs1207347337 0.00001
NM_001244710.2(GFPT1):c.306C>G (p.Pro102=) rs763230648 0.00001
NM_001244710.2(GFPT1):c.408+15C>T rs1357797263 0.00001
NM_001244710.2(GFPT1):c.801G>A (p.Pro267=) rs752515655 0.00001
NM_001244710.2(GFPT1):c.1009+17T>A
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=) rs2104631088
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=) rs1458911769
NM_001244710.2(GFPT1):c.1105+7A>T
NM_001244710.2(GFPT1):c.1106-9T>C
NM_001244710.2(GFPT1):c.115+15A>G rs1401182899
NM_001244710.2(GFPT1):c.115+17A>G
NM_001244710.2(GFPT1):c.115+20A>G
NM_001244710.2(GFPT1):c.116-12A>G rs540758570
NM_001244710.2(GFPT1):c.116-19T>C
NM_001244710.2(GFPT1):c.116-6G>C rs762154144
NM_001244710.2(GFPT1):c.1204-13A>G
NM_001244710.2(GFPT1):c.1204-13_1204-11dup
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=) rs1339146756
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=) rs1168233879
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=) rs1574080849
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)
NM_001244710.2(GFPT1):c.12A>T (p.Ile4=)
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+9A>C
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=) rs2104616321
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=) rs968995023
NM_001244710.2(GFPT1):c.1455T>G (p.Gly485=)
NM_001244710.2(GFPT1):c.1483-10G>A
NM_001244710.2(GFPT1):c.1483-18T>C
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=) rs767370476
NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=)
NM_001244710.2(GFPT1):c.1597+15dup rs2104600661
NM_001244710.2(GFPT1):c.1598-16T>A
NM_001244710.2(GFPT1):c.1598-5C>A
NM_001244710.2(GFPT1):c.1598-8C>T
NM_001244710.2(GFPT1):c.1611A>G (p.Glu537=)
NM_001244710.2(GFPT1):c.1644A>G (p.Leu548=) rs2104600073
NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=)
NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=)
NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=) rs2104599962
NM_001244710.2(GFPT1):c.1725+14G>C
NM_001244710.2(GFPT1):c.1726-16G>C
NM_001244710.2(GFPT1):c.1726-5A>G
NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=)
NM_001244710.2(GFPT1):c.1791T>C (p.Pro597=)
NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=)
NM_001244710.2(GFPT1):c.1869T>C (p.Ala623=)
NM_001244710.2(GFPT1):c.1869T>G (p.Ala623=)
NM_001244710.2(GFPT1):c.1894-9C>G
NM_001244710.2(GFPT1):c.1905G>A (p.Val635=) rs1558725033
NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=)
NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=)
NM_001244710.2(GFPT1):c.1984T>C (p.Leu662=) rs1370889713
NM_001244710.2(GFPT1):c.2016G>A (p.Gln672=)
NM_001244710.2(GFPT1):c.2031C>T (p.His677=) rs2104595358
NM_001244710.2(GFPT1):c.2056-10_2056-9del rs778019023
NM_001244710.2(GFPT1):c.2056-4G>T
NM_001244710.2(GFPT1):c.2056-9T>G
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)
NM_001244710.2(GFPT1):c.224-11A>G
NM_001244710.2(GFPT1):c.224-18T>G
NM_001244710.2(GFPT1):c.224-20T>C
NM_001244710.2(GFPT1):c.228A>G (p.Gln76=)
NM_001244710.2(GFPT1):c.33T>C (p.His11=)
NM_001244710.2(GFPT1):c.350-4_350-3del
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=) rs761321362
NM_001244710.2(GFPT1):c.408+11T>C
NM_001244710.2(GFPT1):c.408+12G>C
NM_001244710.2(GFPT1):c.408+12G>T
NM_001244710.2(GFPT1):c.408+14C>T
NM_001244710.2(GFPT1):c.408+9G>A
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=) rs1671392979
NM_001244710.2(GFPT1):c.468T>G (p.Val156=)
NM_001244710.2(GFPT1):c.544-11T>C
NM_001244710.2(GFPT1):c.544-6C>T
NM_001244710.2(GFPT1):c.597T>C (p.Val199=) rs2104652107
NM_001244710.2(GFPT1):c.606-19C>T
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=) rs2104648039
NM_001244710.2(GFPT1):c.669T>C (p.Pro223=) rs903308197
NM_001244710.2(GFPT1):c.685+18A>G
NM_001244710.2(GFPT1):c.686-12G>A
NM_001244710.2(GFPT1):c.686-15G>A
NM_001244710.2(GFPT1):c.7+11C>T
NM_001244710.2(GFPT1):c.739+19A>G rs1335194019
NM_001244710.2(GFPT1):c.740-20A>G
NM_001244710.2(GFPT1):c.834T>C (p.Ala278=)
NM_001244710.2(GFPT1):c.845+13A>G
NM_001244710.2(GFPT1):c.845+15T>G
NM_001244710.2(GFPT1):c.846-13G>A
NM_001244710.2(GFPT1):c.846-17C>G
NM_001244710.2(GFPT1):c.876C>T (p.Ile292=)
NM_001244710.2(GFPT1):c.897T>C (p.Val299=) rs2104635977
NM_001244710.2(GFPT1):c.948A>G (p.Ala316=)
NM_001244710.2(GFPT1):c.957C>T (p.His319=) rs1574060474

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