ClinVar Miner

List of variants reported as likely pathogenic for oligosaccharidosis

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 466
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HGVS dbSNP gnomAD frequency
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_000262.3(NAGA):c.324+1G>A rs140673721 0.00004
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) rs121434533 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_005908.4(MANBA):c.1318-1G>T rs374545788 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser) rs137854547 0.00003
NM_000308.4(CTSA):c.497del (p.Glu166fs) rs1159382283 0.00003
NM_000308.4(CTSA):c.601-2A>G rs778159802 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000528.4(MAN2B1):c.2664+1G>A rs771953225 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val) rs137854540 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000528.4(MAN2B1):c.1026+2T>G rs369099686 0.00002
NM_000528.4(MAN2B1):c.1929-1G>T rs763100457 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp) rs374377679 0.00002
NM_005908.4(MANBA):c.550-1G>A rs760404534 0.00002
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.301G>A (p.Ala101Thr) rs752914246 0.00001
NM_000027.4(AGA):c.395-8A>G rs386833426 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199 0.00001
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) rs997047045 0.00001
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter) rs781137026 0.00001
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter) rs1189568492 0.00001
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg) rs137854541 0.00001
NM_000308.4(CTSA):c.869+1G>C rs1987148852 0.00001
NM_000434.4(NEU1):c.238C>A (p.Pro80Thr) rs1762543434 0.00001
NM_000434.4(NEU1):c.692T>A (p.Leu231His) rs762400331 0.00001
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro) rs864621992 0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1420-1G>A rs752229880 0.00001
NM_000528.4(MAN2B1):c.1528-1G>A rs561991886 0.00001
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs) rs748872992 0.00001
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591 0.00001
NM_000528.4(MAN2B1):c.1645-2A>T rs891030696 0.00001
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002 0.00001
NM_000528.4(MAN2B1):c.2267+1G>A rs1022927322 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2820+1G>A rs768734132 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493 0.00001
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter) rs1553948361 0.00001
NM_005908.4(MANBA):c.960+1G>A rs890870104 0.00001
NC_000001.10:g.(?_24186268)_(24186413_?)dup
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
NC_000004.11:g.(?_103635575)_(103635738_?)dup
NC_000019.9:g.(?_12758358)_(12759516_?)del
NC_000019.9:g.(?_12760707)_(12763294_?)dup
NC_000019.9:g.(?_12760717)_(12761046_?)dup
NC_000022.10:g.(?_42461722)_(42464598_?)dup
NM_000027.4(AGA):c.1018G>T (p.Glu340Ter)
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.10A>T (p.Lys4Ter)
NM_000027.4(AGA):c.110del (p.Lys37fs)
NM_000027.4(AGA):c.113del (p.Asn38fs)
NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.127+1G>T
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla) rs386833418
NM_000027.4(AGA):c.128-2A>C
NM_000027.4(AGA):c.131G>A (p.Trp44Ter)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.192T>A (p.Cys64Ter) rs386833419
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.199G>T (p.Glu67Ter)
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.200_201dup (p.Gln68fs)
NM_000027.4(AGA):c.281+1G>A
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.282-2A>G
NM_000027.4(AGA):c.28del (p.Leu10fs) rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.325A>T (p.Lys109Ter)
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.369_373del (p.His124fs) rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs) rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.385_394+15del
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
NM_000027.4(AGA):c.39del (p.Leu15fs)
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.44T>G (p.Leu15Arg) rs386833429
NM_000027.4(AGA):c.472del (p.Trp158fs)
NM_000027.4(AGA):c.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.507+1G>C
NM_000027.4(AGA):c.508-2A>C
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.552del (p.Pro185fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
NM_000027.4(AGA):c.623-2A>G rs1483909684
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.698+2T>C rs2111013260
NM_000027.4(AGA):c.698+2T>G
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
NM_000027.4(AGA):c.735dup (p.Tyr246fs)
NM_000027.4(AGA):c.754G>C (p.Gly252Arg) rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.807-1G>A
NM_000027.4(AGA):c.80dup (p.Pro28fs)
NM_000027.4(AGA):c.825C>G (p.Tyr275Ter)
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.941-1G>T
NM_000027.4(AGA):c.941-2A>G rs1553993921
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000137.4(FAH):c.960+1G>A rs1057517201
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1161G>A (p.Trp387Ter)
NM_000147.5(FUCA1):c.1261-1G>A
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.216G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.360G>A (p.Trp120Ter)
NM_000147.5(FUCA1):c.389+2T>G
NM_000147.5(FUCA1):c.418G>A (p.Glu140Lys)
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000147.5(FUCA1):c.524+1G>T
NM_000147.5(FUCA1):c.552dup (p.Leu185fs)
NM_000147.5(FUCA1):c.558dup (p.Glu187fs)
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
NM_000147.5(FUCA1):c.662_662+8del rs766794815
NM_000147.5(FUCA1):c.663-1G>C
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg) rs1639470403
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.768+1G>T
NM_000147.5(FUCA1):c.768+2T>C
NM_000147.5(FUCA1):c.769-2A>C
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.837T>A (p.Cys279Ter)
NM_000147.5(FUCA1):c.911G>A (p.Trp304Ter)
NM_000147.5(FUCA1):c.932_936del (p.Ala311fs)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000262.3(NAGA):c.1101+1G>A
NM_000262.3(NAGA):c.1113dup (p.Tyr372fs)
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
NM_000262.3(NAGA):c.16+1G>A
NM_000262.3(NAGA):c.322_324+9del
NM_000262.3(NAGA):c.324+1G>C
NM_000262.3(NAGA):c.325-1G>C
NM_000262.3(NAGA):c.567G>A (p.Trp189Ter)
NM_000262.3(NAGA):c.598-1G>A
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.759+1_759+8del rs768761898
NM_000262.3(NAGA):c.838C>T (p.Leu280Phe)
NM_000262.3(NAGA):c.949_957+8del
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp) rs121434530
NM_000308.4(CTSA):c.1005del (p.Ala336fs)
NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter)
NM_000308.4(CTSA):c.1088+1G>A
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000308.4(CTSA):c.1255-1G>A
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
NM_000308.4(CTSA):c.1359+2T>C
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) rs137854542
NM_000308.4(CTSA):c.306+2T>A
NM_000308.4(CTSA):c.358-2A>G
NM_000308.4(CTSA):c.360del (p.Ile120fs)
NM_000308.4(CTSA):c.445-18_447del rs1987030082
NM_000308.4(CTSA):c.445-1G>C
NM_000308.4(CTSA):c.445-2A>C
NM_000308.4(CTSA):c.521T>C (p.Leu174Pro) rs2145815915
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
NM_000308.4(CTSA):c.601-2A>C
NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
NM_000308.4(CTSA):c.637C>T (p.Gln213Ter)
NM_000308.4(CTSA):c.673_679del (p.His225fs)
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000308.4(CTSA):c.948+13_954delinsAGA
NM_000308.4(CTSA):c.948+1G>A
NM_000308.4(CTSA):c.990dup (p.Cys331fs) rs758642867
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
NM_000434.4(NEU1):c.352+1G>T
NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys) rs2151544199
NM_000434.4(NEU1):c.947del (p.Pro316fs) rs2151544098
NM_000434.4(NEU1):c.[353-11A>G];[541T>C]
NM_000528.4(MAN2B1):c.1026+2T>C rs369099686
NM_000528.4(MAN2B1):c.1027-1G>C
NM_000528.4(MAN2B1):c.1027-2A>G
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1057_1061del (p.Tyr353fs)
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1109+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1110-1G>A
NM_000528.4(MAN2B1):c.1110-1G>T rs1599352199
NM_000528.4(MAN2B1):c.1110-6_1110del
NM_000528.4(MAN2B1):c.1110dup
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter) rs1057516524
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
NM_000528.4(MAN2B1):c.1231-1G>C
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter) rs2024014272
NM_000528.4(MAN2B1):c.1309+1G>T rs1057516745
NM_000528.4(MAN2B1):c.1310-1G>A rs1555708156
NM_000528.4(MAN2B1):c.1330C>T (p.Gln444Ter)
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter) rs2023996617
NM_000528.4(MAN2B1):c.1379del (p.Asp460fs)
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter) rs1555708126
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter) rs2023994563
NM_000528.4(MAN2B1):c.1419+1G>A
NM_000528.4(MAN2B1):c.1419+1G>T
NM_000528.4(MAN2B1):c.1419+2T>C
NM_000528.4(MAN2B1):c.1419+2_1419+15del rs2145256406
NM_000528.4(MAN2B1):c.1420-104_1449del
NM_000528.4(MAN2B1):c.1420-27_1420-3del
NM_000528.4(MAN2B1):c.1420-2A>G rs2145254657
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter) rs2023979174
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs) rs1057517316
NM_000528.4(MAN2B1):c.1478del (p.Cys493fs)
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter) rs755508725
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs) rs1599349822
NM_000528.4(MAN2B1):c.1527+1G>A
NM_000528.4(MAN2B1):c.1527+1G>C rs1322313985
NM_000528.4(MAN2B1):c.1528-1G>T rs561991886
NM_000528.4(MAN2B1):c.1528-2A>G
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter) rs2023968144
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
NM_000528.4(MAN2B1):c.159+1G>A rs1555710254
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.162del (p.Cys55fs) rs2145290970
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.168dup (p.Thr57fs)
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter) rs2023939487
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs) rs1057516459
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter) rs1224319934
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs) rs1057516289
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929-2A>G rs2023856348
NM_000528.4(MAN2B1):c.1929-2A>T
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter) rs2023853280
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter) rs2023852354
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter) rs2023851530
NM_000528.4(MAN2B1):c.2046+1G>A rs1555707087
NM_000528.4(MAN2B1):c.2046+1G>T rs1555707087
NM_000528.4(MAN2B1):c.2047-1G>A rs1057517166
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter) rs2023809731
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter) rs2023809176
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs) rs1555706774
NM_000528.4(MAN2B1):c.2119C>T (p.Gln707Ter)
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2165+1del rs1555706752
NM_000528.4(MAN2B1):c.2166-2A>G rs2145232776
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter) rs2023804275
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter) rs1392422167
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly) rs80338680
NM_000528.4(MAN2B1):c.2268-1G>C rs1555706596
NM_000528.4(MAN2B1):c.2268-2A>T rs2023783146
NM_000528.4(MAN2B1):c.2276del (p.Tyr759fs)
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter) rs1555710070
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2356-2A>G rs1064793936
NM_000528.4(MAN2B1):c.2368C>T (p.Gln790Ter)
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs) rs1347035611
NM_000528.4(MAN2B1):c.2436+1G>A rs200036864
NM_000528.4(MAN2B1):c.2436+5G>A
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.2437-300_2719del
NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) rs1291147781
NM_000528.4(MAN2B1):c.2534_2543del (p.Leu845fs)
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
NM_000528.4(MAN2B1):c.2581G>T (p.Glu861Ter)
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
NM_000528.4(MAN2B1):c.262+2T>C
NM_000528.4(MAN2B1):c.263-1G>A
NM_000528.4(MAN2B1):c.263-2A>C
NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)
NM_000528.4(MAN2B1):c.2665-1G>C rs1555706185
NM_000528.4(MAN2B1):c.2665-2A>G
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter) rs368224056
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter) rs139366493
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter) rs2023718817
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter) rs1057516325
NM_000528.4(MAN2B1):c.2786delinsTCC (p.Arg929fs)
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2821-2A>G
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs) rs2023710111
NM_000528.4(MAN2B1):c.2917_2923+1dup
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs) rs1555705992
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs) rs1057516897
NM_000528.4(MAN2B1):c.2923+2T>A
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys) rs2024208039
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.426del (p.Val143fs) rs2024205685
NM_000528.4(MAN2B1):c.437-1G>A
NM_000528.4(MAN2B1):c.437-1dup rs1160557969
NM_000528.4(MAN2B1):c.437-2A>G
NM_000528.4(MAN2B1):c.437-2del
NM_000528.4(MAN2B1):c.440del (p.Arg147fs)
NM_000528.4(MAN2B1):c.446del (p.Glu149fs) rs1057516682
NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)
NM_000528.4(MAN2B1):c.464G>A (p.Trp155Ter)
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.590_591dup (p.Phe198fs)
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
NM_000528.4(MAN2B1):c.631-2A>C
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter) rs2145294443
NM_000528.4(MAN2B1):c.682del (p.Val228fs)
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu) rs574202419
NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)
NM_000528.4(MAN2B1):c.763+2_763+8del rs1057517108
NM_000528.4(MAN2B1):c.764-1G>A
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter) rs1329771201
NM_000528.4(MAN2B1):c.820_821del (p.Val274fs)
NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
NM_000528.4(MAN2B1):c.909+1G>C
NM_000528.4(MAN2B1):c.938_939del (p.Val313fs)
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs) rs1057516972
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter) rs774034389
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_005908.4(MANBA):c.1064C>G (p.Ser355Ter)
NM_005908.4(MANBA):c.1112+1G>T
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
NM_005908.4(MANBA):c.1231-1G>A
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) rs1553945794
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) rs764364492
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
NM_005908.4(MANBA):c.1704+1G>T
NM_005908.4(MANBA):c.1705-2A>G
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_005908.4(MANBA):c.178-2A>G
NM_005908.4(MANBA):c.1867C>T (p.Gln623Ter)
NM_005908.4(MANBA):c.1990C>T (p.Gln664Ter)
NM_005908.4(MANBA):c.2013dup (p.Glu672Ter)
NM_005908.4(MANBA):c.2015-1G>A
NM_005908.4(MANBA):c.2053C>T (p.Gln685Ter)
NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGACCCATCTG (p.Arg71delinsLeuTer)
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2346_2349delinsTTCAG (p.Pro784fs)
NM_005908.4(MANBA):c.272+2T>C
NM_005908.4(MANBA):c.273-1G>A
NM_005908.4(MANBA):c.378+2T>C
NM_005908.4(MANBA):c.379-1G>A
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361
NM_005908.4(MANBA):c.549+1G>A rs1334537145
NM_005908.4(MANBA):c.673+1G>A
NM_005908.4(MANBA):c.674-1G>C
NM_005908.4(MANBA):c.674-2A>G
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
NM_005908.4(MANBA):c.850_851del (p.Asn284fs)
NM_005908.4(MANBA):c.916del (p.Leu306fs)
NM_005908.4(MANBA):c.961-2A>C rs1411236177

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