ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 12 by Invitae

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 306
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HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_001244710.2(GFPT1):c.7+36T>C rs6720415 0.57447
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_001244710.2(GFPT1):c.408+7A>T rs112682152 0.01229
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=) rs78952091 0.00975
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=) rs144566433 0.00249
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.224-12C>T rs375455794 0.00070
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys) rs201322234 0.00030
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.1629C>T (p.Asp543=) rs369055649 0.00021
NM_001244710.2(GFPT1):c.223+5C>T rs200631666 0.00021
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr) rs142871135 0.00015
NM_001244710.2(GFPT1):c.1725+14G>A rs201672242 0.00014
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln) rs555854564 0.00014
NM_001244710.2(GFPT1):c.1483-11T>G rs147573852 0.00013
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val) rs948398303 0.00012
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=) rs775046657 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_001244710.2(GFPT1):c.1483-8T>C rs569347921 0.00007
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr) rs753866967 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.229C>A (p.Gln77Lys) rs143036820 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.1324+3G>A rs367865496 0.00005
NM_001244710.2(GFPT1):c.224-10T>C rs777508704 0.00005
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.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.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.209A>G (p.Asp70Gly) rs530830788 0.00002
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) rs751097758 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.686-2A>G rs1011196447 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.1001T>A (p.Ile334Asn) rs1285177343 0.00001
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.118G>T (p.Val40Leu) rs1247230551 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.1501G>A (p.Val501Ile) rs1279403583 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.1624G>T (p.Asp542Tyr) rs1308915445 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.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.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.223+19T>C rs532780798 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.408+15C>T rs1357797263 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.801G>A (p.Pro267=) rs752515655 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.*22C>A rs199678034
NM_001244710.2(GFPT1):c.*22C>T rs199678034
NM_001244710.2(GFPT1):c.1009+17T>A
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.1081A>C (p.Arg361=) rs2104631088
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=) rs1458911769
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
NM_001244710.2(GFPT1):c.1105+1G>A rs1553389102
NM_001244710.2(GFPT1):c.1105+7A>T
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
NM_001244710.2(GFPT1):c.1106-1G>T rs1670970306
NM_001244710.2(GFPT1):c.1106-9T>C
NM_001244710.2(GFPT1):c.115+15A>G rs1401182899
NM_001244710.2(GFPT1):c.115+15dup rs758929556
NM_001244710.2(GFPT1):c.115+17A>G
NM_001244710.2(GFPT1):c.115+20A>G
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.116-19T>C
NM_001244710.2(GFPT1):c.116-6G>C rs762154144
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.1204-13A>G
NM_001244710.2(GFPT1):c.1204-13_1204-11dup
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.1267C>T (p.Leu423=) rs1168233879
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)
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)
NM_001244710.2(GFPT1):c.12A>T (p.Ile4=)
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
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=) rs2104616321
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala) rs1287808167
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=) rs968995023
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
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.1455T>G (p.Gly485=)
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
NM_001244710.2(GFPT1):c.1483-10G>A
NM_001244710.2(GFPT1):c.1483-13del
NM_001244710.2(GFPT1):c.1483-18T>C
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.1561C>T (p.Arg521Cys) rs1421146245
NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=)
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
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.1685G>A (p.Gly562Glu)
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)
NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=)
NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=)
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
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.1837A>G (p.Arg613Gly)
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)
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.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.1927A>G (p.Thr643Ala) rs772026265
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val) rs1574039131
NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=)
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.1956G>A (p.Thr652=)
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=)
NM_001244710.2(GFPT1):c.2031C>T (p.His677=) rs2104595358
NM_001244710.2(GFPT1):c.2040G>A (p.Val680=)
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
NM_001244710.2(GFPT1):c.2056-9T>G
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro) rs1671705543
NM_001244710.2(GFPT1):c.223+6G>A rs1295165260
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.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.33T>C (p.His11=)
NM_001244710.2(GFPT1):c.349+17dup rs780939646
NM_001244710.2(GFPT1):c.350-3T>C
NM_001244710.2(GFPT1):c.350-4_350-3del
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser) rs1671414273
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=) rs761321362
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
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+5G>A rs1558762013
NM_001244710.2(GFPT1):c.408+9G>A
NM_001244710.2(GFPT1):c.409-15del rs753279036
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=) rs1671392979
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
NM_001244710.2(GFPT1):c.468T>G (p.Val156=)
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.544-11T>C
NM_001244710.2(GFPT1):c.544-11dup rs1242206987
NM_001244710.2(GFPT1):c.544-6C>T
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.597T>C (p.Val199=) rs2104652107
NM_001244710.2(GFPT1):c.606-19C>T
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.642A>G (p.Glu214=) rs2104648039
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.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.686-18dup
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+11C>T
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs)
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.740-20A>G
NM_001244710.2(GFPT1):c.740-8T>C rs2104639173
NM_001244710.2(GFPT1):c.741dup (p.Lys248fs)
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=)
NM_001244710.2(GFPT1):c.845+13A>G
NM_001244710.2(GFPT1):c.845+15T>G
NM_001244710.2(GFPT1):c.845+6C>T rs767647134
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.89_90del (p.Leu30fs) rs1671813157
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)
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp) rs1671813015
NM_001244710.2(GFPT1):c.948A>G (p.Ala316=)
NM_001244710.2(GFPT1):c.957C>T (p.His319=) rs1574060474
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter) rs1558749457

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