ClinVar Miner

List of variants studied for MPI-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 390
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_002435.3(MPI):c.345+16C>T rs143242949 0.01224
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_002435.3(MPI):c.144+16T>A rs138182675 0.00434
NM_002435.3(MPI):c.144+18T>A rs186045258 0.00434
NM_002435.3(MPI):c.144+20T>A rs190812626 0.00434
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_002435.3(MPI):c.670+11T>C rs144118442 0.00046
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_002435.3(MPI):c.819C>T (p.Asn273=) rs576592379 0.00027
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_002435.3(MPI):c.671-4T>G rs199719453 0.00025
NM_002435.3(MPI):c.908T>C (p.Ile303Thr) rs139866632 0.00024
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002435.3(MPI):c.662C>G (p.Ser221Cys) rs760911969 0.00010
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_002435.3(MPI):c.849C>T (p.Cys283=) rs377419930 0.00007
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_002435.3(MPI):c.390C>T (p.Pro130=) rs140961968 0.00006
NM_002435.3(MPI):c.61A>G (p.Met21Val) rs376746368 0.00006
NM_002435.3(MPI):c.708G>A (p.Glu236=) rs530537706 0.00006
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_002435.3(MPI):c.1053+15A>G rs564765063 0.00004
NM_002435.3(MPI):c.1175G>A (p.Arg392His) rs762164813 0.00004
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.144+12G>T rs369867765 0.00003
NM_002435.3(MPI):c.162C>T (p.His54=) rs763885017 0.00003
NM_002435.3(MPI):c.69C>T (p.Ser23=) rs140124850 0.00003
NM_002435.3(MPI):c.780T>C (p.Leu260=) rs371012451 0.00003
NM_002435.3(MPI):c.1064C>T (p.Ser355Phe) rs763169640 0.00002
NM_002435.3(MPI):c.1233G>A (p.Pro411=) rs746867428 0.00002
NM_002435.3(MPI):c.1271A>G (p.Ter424=) rs896962413 0.00002
NM_002435.3(MPI):c.17-7C>T rs539654088 0.00002
NM_002435.3(MPI):c.264del (p.Asp88fs) rs868127074 0.00002
NM_002435.3(MPI):c.345+20G>A rs772479528 0.00002
NM_002435.3(MPI):c.487+2del rs1057516550 0.00002
NM_002435.3(MPI):c.639C>T (p.Leu213=) rs763155512 0.00002
NM_002435.3(MPI):c.90G>A (p.Leu30=) rs760006403 0.00002
NM_002435.3(MPI):c.1002C>T (p.Tyr334=) rs1244689117 0.00001
NM_002435.3(MPI):c.1038C>T (p.Thr346=) rs2064832183 0.00001
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys) rs751962765 0.00001
NM_002435.3(MPI):c.123A>G (p.Ala41=) rs1280433010 0.00001
NM_002435.3(MPI):c.1242G>A (p.Leu414=) rs780975089 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.145-11T>C rs768029221 0.00001
NM_002435.3(MPI):c.145-1G>C rs1057516573 0.00001
NM_002435.3(MPI):c.16+16G>T rs751527702 0.00001
NM_002435.3(MPI):c.16+8A>G rs765308824 0.00001
NM_002435.3(MPI):c.16+9T>C rs763004015 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.18A>G (p.Val6=) rs754249618 0.00001
NM_002435.3(MPI):c.1A>G (p.Met1Val) rs528828174 0.00001
NM_002435.3(MPI):c.216C>T (p.Ser72=) rs772501173 0.00001
NM_002435.3(MPI):c.244T>C (p.Leu82=) rs1360638113 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.264C>T (p.Asp88=) rs529795568 0.00001
NM_002435.3(MPI):c.27T>G (p.Leu9=) rs193018589 0.00001
NM_002435.3(MPI):c.285C>T (p.Pro95=) rs1001297444 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.603G>C (p.Leu201=) rs369609955 0.00001
NM_002435.3(MPI):c.651G>A (p.Val217=) rs762051658 0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002435.3(MPI):c.723G>A (p.Leu241=) rs965973212 0.00001
NM_002435.3(MPI):c.732G>A (p.Gln244=) rs755747644 0.00001
NM_002435.3(MPI):c.746T>C (p.Ile249Thr) rs201676072 0.00001
NM_002435.3(MPI):c.747C>T (p.Ile249=) rs778875616 0.00001
NM_002435.3(MPI):c.768C>T (p.Phe256=) rs1402063128 0.00001
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002435.3(MPI):c.963C>T (p.Asp321=) rs1256066211 0.00001
NM_002435.3(MPI):c.96C>T (p.Ala32=) rs919325069 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NC_000015.9:g.(?_75188483)_(75190081_?)del
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs) rs2141208628
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
NM_002435.3(MPI):c.1008A>C (p.Ser336=)
NM_002435.3(MPI):c.1008A>T (p.Ser336=) rs2141208646
NM_002435.3(MPI):c.1017C>T (p.Asp339=)
NM_002435.3(MPI):c.1020C>T (p.Pro340=) rs2141208695
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1034dup (p.Thr346fs) rs2141208718
NM_002435.3(MPI):c.1053+14T>C
NM_002435.3(MPI):c.1053+16T>C
NM_002435.3(MPI):c.1053+20G>C
NM_002435.3(MPI):c.1053+2T>C rs2141208760
NM_002435.3(MPI):c.1054-11T>C
NM_002435.3(MPI):c.1054-17_1054-15del
NM_002435.3(MPI):c.1054-6G>A
NM_002435.3(MPI):c.1054-7T>C rs2141209464
NM_002435.3(MPI):c.1054-8C>G rs2141209458
NM_002435.3(MPI):c.1054-9C>T
NM_002435.3(MPI):c.1058del (p.Pro353fs)
NM_002435.3(MPI):c.1062C>T (p.Gly354=)
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1074A>G (p.Glu358=) rs2141209541
NM_002435.3(MPI):c.1083C>T (p.Val361=)
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1095C>T (p.Asp365=) rs2064840337
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro) rs1555479551
NM_002435.3(MPI):c.1098T>G (p.Ser366=)
NM_002435.3(MPI):c.1111C>T (p.Leu371=) rs1403486851
NM_002435.3(MPI):c.1113G>A (p.Leu371=) rs2141209616
NM_002435.3(MPI):c.1113G>T (p.Leu371=)
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
NM_002435.3(MPI):c.1122G>A (p.Gln374=)
NM_002435.3(MPI):c.1137C>T (p.Ala379=) rs2141209695
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
NM_002435.3(MPI):c.1140C>T (p.Ser380=) rs2141209705
NM_002435.3(MPI):c.1143A>C (p.Thr381=) rs1595824783
NM_002435.3(MPI):c.1152C>G (p.Thr384=)
NM_002435.3(MPI):c.1152C>T (p.Thr384=) rs2064841631
NM_002435.3(MPI):c.1157C>T (p.Thr386Ile) rs2141209748
NM_002435.3(MPI):c.1166del (p.Pro389fs)
NM_002435.3(MPI):c.1170G>A (p.Leu390=)
NM_002435.3(MPI):c.1170G>C (p.Leu390=)
NM_002435.3(MPI):c.1170G>T (p.Leu390=)
NM_002435.3(MPI):c.1173A>G (p.Gln391=)
NM_002435.3(MPI):c.1179T>C (p.Gly393=)
NM_002435.3(MPI):c.1188C>G (p.Leu396=)
NM_002435.3(MPI):c.1188C>T (p.Leu396=)
NM_002435.3(MPI):c.1197G>A (p.Gly399=) rs2064842732
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
NM_002435.3(MPI):c.1212C>T (p.Val404=) rs2064843052
NM_002435.3(MPI):c.1216C>T (p.Leu406=) rs1268364682
NM_002435.3(MPI):c.1224T>A (p.Leu408=)
NM_002435.3(MPI):c.1227T>C (p.Thr409=)
NM_002435.3(MPI):c.122del (p.Ala41fs)
NM_002435.3(MPI):c.1233G>T (p.Pro411=) rs746867428
NM_002435.3(MPI):c.1236G>A (p.Lys412=) rs2141209962
NM_002435.3(MPI):c.124G>C (p.Glu42Gln)
NM_002435.3(MPI):c.1263T>C (p.Cys421=)
NM_002435.3(MPI):c.1264C>T (p.Leu422=)
NM_002435.3(MPI):c.1266G>C (p.Leu422=) rs779158025
NM_002435.3(MPI):c.1267C>T (p.Leu423=) rs2141210022
NM_002435.3(MPI):c.1269G>C (p.Leu423=) rs371664469
NM_002435.3(MPI):c.126G>A (p.Glu42=)
NM_002435.3(MPI):c.129C>T (p.Asp43=) rs2141196159
NM_002435.3(MPI):c.138T>C (p.Tyr46=) rs2141196187
NM_002435.3(MPI):c.140C>G (p.Ala47Gly)
NM_002435.3(MPI):c.141A>G (p.Ala47=)
NM_002435.3(MPI):c.144+10G>A rs2064712214
NM_002435.3(MPI):c.144+13C>T
NM_002435.3(MPI):c.144+15G>A
NM_002435.3(MPI):c.144+19T>G
NM_002435.3(MPI):c.144+1G>A
NM_002435.3(MPI):c.144+20T>C
NM_002435.3(MPI):c.144+2T>C
NM_002435.3(MPI):c.144+7C>T
NM_002435.3(MPI):c.145-10G>A
NM_002435.3(MPI):c.145-13C>T
NM_002435.3(MPI):c.145-5T>C
NM_002435.3(MPI):c.145-9T>C rs2141197441
NM_002435.3(MPI):c.150G>A (p.Trp50Ter) rs1406722622
NM_002435.3(MPI):c.156G>A (p.Gly52=) rs2141197487
NM_002435.3(MPI):c.159T>C (p.Thr53=)
NM_002435.3(MPI):c.15_16+5del rs2141194911
NM_002435.3(MPI):c.16+11G>A
NM_002435.3(MPI):c.16+13C>T
NM_002435.3(MPI):c.16+15G>A
NM_002435.3(MPI):c.16+15G>C
NM_002435.3(MPI):c.16+15G>T
NM_002435.3(MPI):c.16+17G>A
NM_002435.3(MPI):c.16+17G>C
NM_002435.3(MPI):c.16+18G>T
NM_002435.3(MPI):c.16+18dup
NM_002435.3(MPI):c.16+1G>A
NM_002435.3(MPI):c.16+7C>T
NM_002435.3(MPI):c.16+8A>T
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.17-12C>G
NM_002435.3(MPI):c.17-13T>C
NM_002435.3(MPI):c.17-4C>G
NM_002435.3(MPI):c.170G>T (p.Gly57Val)
NM_002435.3(MPI):c.171G>A (p.Gly57=)
NM_002435.3(MPI):c.177C>A (p.Ala59=)
NM_002435.3(MPI):c.177C>T (p.Ala59=) rs2064724687
NM_002435.3(MPI):c.180G>A (p.Lys60=)
NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile)
NM_002435.3(MPI):c.194G>A (p.Arg65His)
NM_002435.3(MPI):c.204G>A (p.Gln68=)
NM_002435.3(MPI):c.206del (p.Lys69fs)
NM_002435.3(MPI):c.207G>A (p.Lys69=)
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
NM_002435.3(MPI):c.225T>C (p.Ile75=)
NM_002435.3(MPI):c.231G>A (p.Glu77=)
NM_002435.3(MPI):c.238G>A (p.Asp80Asn) rs1444877183
NM_002435.3(MPI):c.246G>A (p.Leu82=)
NM_002435.3(MPI):c.249C>A (p.Gly83=) rs146863816
NM_002435.3(MPI):c.249C>T (p.Gly83=)
NM_002435.3(MPI):c.258C>T (p.Val86=) rs2141197661
NM_002435.3(MPI):c.282G>C (p.Leu94=) rs2141197716
NM_002435.3(MPI):c.288C>T (p.Phe96=) rs2064726439
NM_002435.3(MPI):c.303C>G (p.Leu101=)
NM_002435.3(MPI):c.306A>G (p.Ser102=) rs2141197776
NM_002435.3(MPI):c.315A>C (p.Thr105=) rs755946117
NM_002435.3(MPI):c.315A>T (p.Thr105=)
NM_002435.3(MPI):c.319C>T (p.Leu107=) rs2064727157
NM_002435.3(MPI):c.324C>T (p.Ser108=) rs2141197827
NM_002435.3(MPI):c.335_338del (p.His112fs) rs2141197839
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.33T>G (p.Cys11Trp) rs2064708840
NM_002435.3(MPI):c.342C>T (p.Asn114=)
NM_002435.3(MPI):c.345+15_345+16delinsAT rs1064794476
NM_002435.3(MPI):c.345+17G>A
NM_002435.3(MPI):c.345+19T>C
NM_002435.3(MPI):c.346-10C>G
NM_002435.3(MPI):c.346-12G>A
NM_002435.3(MPI):c.346-15C>T
NM_002435.3(MPI):c.346-16C>T
NM_002435.3(MPI):c.346-18C>A
NM_002435.3(MPI):c.346-5C>T
NM_002435.3(MPI):c.346-8C>T rs906781914
NM_002435.3(MPI):c.351G>A (p.Leu117=)
NM_002435.3(MPI):c.360G>A (p.Lys120=)
NM_002435.3(MPI):c.362T>C (p.Leu121Pro)
NM_002435.3(MPI):c.363G>A (p.Leu121=) rs879379479
NM_002435.3(MPI):c.366C>T (p.His122=)
NM_002435.3(MPI):c.369C>T (p.Leu123=)
NM_002435.3(MPI):c.36G>C (p.Ala12=)
NM_002435.3(MPI):c.370dup (p.Gln124fs)
NM_002435.3(MPI):c.381G>A (p.Gln127=)
NM_002435.3(MPI):c.396C>T (p.Ala132=) rs2141199526
NM_002435.3(MPI):c.402C>T (p.His134=) rs2141199543
NM_002435.3(MPI):c.417C>T (p.Ala139=)
NM_002435.3(MPI):c.426C>G (p.Leu142=)
NM_002435.3(MPI):c.432C>G (p.Pro144=) rs145767808
NM_002435.3(MPI):c.432C>T (p.Pro144=) rs145767808
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
NM_002435.3(MPI):c.444G>A (p.Leu148=)
NM_002435.3(MPI):c.44del (p.Gln15fs)
NM_002435.3(MPI):c.455G>C (p.Arg152Pro) rs766458792
NM_002435.3(MPI):c.459A>G (p.Pro153=)
NM_002435.3(MPI):c.45G>C (p.Gln15His) rs371649838
NM_002435.3(MPI):c.465G>A (p.Glu155=)
NM_002435.3(MPI):c.471T>A (p.Ile157=)
NM_002435.3(MPI):c.471T>C (p.Ile157=)
NM_002435.3(MPI):c.477C>T (p.Thr159=)
NM_002435.3(MPI):c.487+10G>A rs2141199719
NM_002435.3(MPI):c.487+12A>G
NM_002435.3(MPI):c.487+14A>C
NM_002435.3(MPI):c.487+17G>A
NM_002435.3(MPI):c.487+7T>C
NM_002435.3(MPI):c.488-12G>A rs969925962
NM_002435.3(MPI):c.488-12G>C
NM_002435.3(MPI):c.488-17G>A
NM_002435.3(MPI):c.488-5T>C rs2141200247
NM_002435.3(MPI):c.490del (p.Val164fs)
NM_002435.3(MPI):c.492G>A (p.Val164=) rs2141200277
NM_002435.3(MPI):c.507C>T (p.Phe169=)
NM_002435.3(MPI):c.527C>T (p.Ala176Val) rs1256364766
NM_002435.3(MPI):c.530C>T (p.Thr177Ile)
NM_002435.3(MPI):c.531A>G (p.Thr177=)
NM_002435.3(MPI):c.533A>C (p.His178Pro) rs2141200350
NM_002435.3(MPI):c.534C>T (p.His178=) rs775688839
NM_002435.3(MPI):c.546C>T (p.Thr182=) rs2064752091
NM_002435.3(MPI):c.567T>C (p.Ala189=)
NM_002435.3(MPI):c.576C>G (p.Ser192=)
NM_002435.3(MPI):c.576C>T (p.Ser192=) rs794727716
NM_002435.3(MPI):c.587G>A (p.Ser196Asn)
NM_002435.3(MPI):c.591T>C (p.Cys197=) rs2141200469
NM_002435.3(MPI):c.593dup (p.Ser199fs)
NM_002435.3(MPI):c.594C>T (p.Phe198=) rs1399029075
NM_002435.3(MPI):c.602T>C (p.Leu201Pro) rs2064752971
NM_002435.3(MPI):c.60G>A (p.Lys20=) rs779832985
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
NM_002435.3(MPI):c.618G>A (p.Lys206=) rs777538825
NM_002435.3(MPI):c.627G>A (p.Val209=)
NM_002435.3(MPI):c.627G>T (p.Val209=)
NM_002435.3(MPI):c.630G>A (p.Val210=)
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_002435.3(MPI):c.633A>G (p.Glu211=) rs2141200588
NM_002435.3(MPI):c.643C>T (p.Leu215=) rs1595818707
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer) rs2141200617
NM_002435.3(MPI):c.657G>A (p.Arg219=) rs1318782866
NM_002435.3(MPI):c.657G>C (p.Arg219=) rs1318782866
NM_002435.3(MPI):c.657del (p.Ile220fs)
NM_002435.3(MPI):c.65del (p.Gly22fs)
NM_002435.3(MPI):c.661T>A (p.Ser221Thr)
NM_002435.3(MPI):c.670+10G>A rs2141200747
NM_002435.3(MPI):c.670+13A>G
NM_002435.3(MPI):c.670+14T>C
NM_002435.3(MPI):c.670+15A>C
NM_002435.3(MPI):c.670+3G>A
NM_002435.3(MPI):c.670+7A>G
NM_002435.3(MPI):c.670+8_670+9del
NM_002435.3(MPI):c.670+8_670+9inv
NM_002435.3(MPI):c.670+9A>C rs7495739
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.670+9del
NM_002435.3(MPI):c.670+9dup rs1595818806
NM_002435.3(MPI):c.671-13_671-12del
NM_002435.3(MPI):c.671-15C>G
NM_002435.3(MPI):c.671-15C>T
NM_002435.3(MPI):c.671-7C>T rs2141206472
NM_002435.3(MPI):c.671-8A>T
NM_002435.3(MPI):c.671-9G>C rs561678676
NM_002435.3(MPI):c.675T>C (p.Ala225=)
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002435.3(MPI):c.678C>T (p.Ala226=)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.681A>G (p.Gly227=) rs1595822320
NM_002435.3(MPI):c.693G>A (p.Glu231=) rs2141206565
NM_002435.3(MPI):c.695A>G (p.Asp232Gly) rs765912695
NM_002435.3(MPI):c.699C>T (p.Ile233=)
NM_002435.3(MPI):c.6C>A (p.Ala2=) rs149477499
NM_002435.3(MPI):c.6C>G (p.Ala2=)
NM_002435.3(MPI):c.6C>T (p.Ala2=) rs149477499
NM_002435.3(MPI):c.706dup (p.Glu236fs)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.744T>C (p.Asp248=) rs2141206666
NM_002435.3(MPI):c.745dup (p.Ile249fs) rs2141206676
NM_002435.3(MPI):c.747C>A (p.Ile249=) rs778875616
NM_002435.3(MPI):c.751del (p.Cys251fs)
NM_002435.3(MPI):c.753del (p.Phe252fs) rs2141206722
NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
NM_002435.3(MPI):c.765C>T (p.Tyr255=)
NM_002435.3(MPI):c.769C>T (p.Leu257=) rs1595822532
NM_002435.3(MPI):c.771G>A (p.Leu257=) rs2141206771
NM_002435.3(MPI):c.774C>T (p.Asn258=)
NM_002435.3(MPI):c.775C>T (p.Leu259=) rs2141206776
NM_002435.3(MPI):c.777G>A (p.Leu259=)
NM_002435.3(MPI):c.783C>A (p.Thr261=) rs2141206797
NM_002435.3(MPI):c.783C>T (p.Thr261=) rs2141206797
NM_002435.3(MPI):c.786G>A (p.Leu262=) rs1301498236
NM_002435.3(MPI):c.78A>G (p.Glu26=) rs1596440826
NM_002435.3(MPI):c.792T>C (p.Pro264=)
NM_002435.3(MPI):c.792dup (p.Gly265fs)
NM_002435.3(MPI):c.810G>A (p.Leu270=)
NM_002435.3(MPI):c.810G>C (p.Leu270=) rs2141206859
NM_002435.3(MPI):c.816C>G (p.Ala272=) rs2064817492
NM_002435.3(MPI):c.820dup (p.Val274fs) rs1567268668
NM_002435.3(MPI):c.830_831del (p.Ala277fs)
NM_002435.3(MPI):c.834C>T (p.Tyr278=)
NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
NM_002435.3(MPI):c.843_844+1del
NM_002435.3(MPI):c.844+10A>G
NM_002435.3(MPI):c.844+14C>G
NM_002435.3(MPI):c.844+1G>A rs1394866894
NM_002435.3(MPI):c.844+2T>G rs2141206921
NM_002435.3(MPI):c.844+9C>G rs2141206935
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_002435.3(MPI):c.845-14G>A
NM_002435.3(MPI):c.845-14_845-12del
NM_002435.3(MPI):c.845-15C>T
NM_002435.3(MPI):c.845-17G>T
NM_002435.3(MPI):c.845-18dup
NM_002435.3(MPI):c.845-20C>T
NM_002435.3(MPI):c.845-2A>G rs2064828055
NM_002435.3(MPI):c.845-2del rs1555479341
NM_002435.3(MPI):c.845-4C>A
NM_002435.3(MPI):c.845-9T>C
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.864G>A (p.Ala288=) rs1017060960
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.882T>G (p.Val294=) rs2141208380
NM_002435.3(MPI):c.894G>A (p.Leu298=)
NM_002435.3(MPI):c.914T>A (p.Val305Glu)
NM_002435.3(MPI):c.91T>C (p.Leu31=) rs765537697
NM_002435.3(MPI):c.920C>G (p.Thr307Ser)
NM_002435.3(MPI):c.936C>T (p.Leu312=) rs1362422803
NM_002435.3(MPI):c.939C>T (p.Ser313=)
NM_002435.3(MPI):c.945C>T (p.Thr315=)
NM_002435.3(MPI):c.948T>A (p.Pro316=) rs778221310
NM_002435.3(MPI):c.969C>G (p.Leu323=)
NM_002435.3(MPI):c.969_970del (p.Phe324fs)
NM_002435.3(MPI):c.984G>C (p.Arg328=)
NM_002435.3(MPI):c.984G>T (p.Arg328=)
NM_002435.3(MPI):c.987T>C (p.Ser329=)
NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002435.3(MPI):c.993A>G (p.Glu331=) rs2141208617
NM_002435.3(MPI):c.996C>T (p.Asp332=) rs1042715923

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