ClinVar Miner

List of variants reported as pathogenic for oligosaccharidosis

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 492
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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_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525 0.00009
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2046+2T>A rs748712495 0.00007
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln) rs121434533 0.00004
NM_000308.4(CTSA):c.1-2A>G rs979557944 0.00004
NM_000308.4(CTSA):c.60del (p.Ser21fs) rs750928198 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000308.4(CTSA):c.497del (p.Glu166fs) rs1159382283 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450 0.00002
NM_000308.4(CTSA):c.991del (p.Cys331fs) rs745743780 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000434.4(NEU1):c.982G>A (p.Gly328Ser) rs534846786 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.2013del (p.Pro671_Val672insTer) rs999923581 0.00002
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter) rs763849774 0.00002
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.395-8A>G rs386833426 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 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.244C>T (p.Gln82Ter) rs80358196 0.00001
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) rs997047045 0.00001
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) rs587779399 0.00001
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600 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.394G>A (p.Val132Met) rs137854545 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) rs193922915 0.00001
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) rs104893985 0.00001
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly) rs398123392 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000434.4(NEU1):c.718T>C (p.Trp240Arg) rs104893978 0.00001
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983 0.00001
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) rs104893977 0.00001
NM_000434.4(NEU1):c.838C>T (p.Arg280Ter) rs945372017 0.00001
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333 0.00001
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter) rs778554304 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 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.1687G>T (p.Glu563Ter) rs1057516927 0.00001
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678 0.00001
NM_000528.4(MAN2B1):c.2436+2T>C rs398123457 0.00001
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs) rs774791244 0.00001
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu) rs1369134650 0.00001
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351 0.00001
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930 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_005908.4(MANBA):c.1434del (p.Lys479fs) rs776601022 0.00001
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter) rs771865668 0.00001
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter) rs1309076303 0.00001
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter) rs1035305358 0.00001
NM_005908.4(MANBA):c.375A>G (p.Arg125=) rs771587242 0.00001
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer) rs752343321 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
GRCh37/hg19 6p21.33(chr6:31824828-31834398)
NC_000001.10:g.(?_24172205)_(24194776_?)del
NC_000001.10:g.(?_24175119)_(24175349_?)del
NC_000001.10:g.(?_24180830)_(24189781_?)del
NC_000001.10:g.(?_24191961)_(24194776_?)del
NC_000001.11:g.(?_23859778)_(23859923_?)del
NC_000004.11:g.(?_101947022)_(104640832_?)del
NC_000004.11:g.(?_103590100)_(103611948_?)del
NC_000004.11:g.(?_103610711)_(103645144_?)del
NC_000004.11:g.(?_178351918)_(178357515_?)del
NC_000004.11:g.(?_178352862)_(178358693_?)del
NC_000004.11:g.(?_178352862)_(178360031_?)del
NC_000004.11:g.(?_178352862)_(178363529_?)del
NC_000004.11:g.(?_178357420)_(178363667_?)del
NC_000004.11:g.(?_178363383)_(178363529_?)del
NC_000004.11:g.(?_178363393)_(178363667_?)del
NC_000019.10:g.(?_12656561)_(12661386_?)del
NC_000019.10:g.12536733_12537889del
NC_000019.9:g.(?_12757424)_(12769334_?)del
NC_000019.9:g.(?_12757434)_(12758432_?)del
NC_000019.9:g.(?_12757434)_(12761056_?)del
NC_000019.9:g.(?_12757434)_(12772210_?)del
NC_000019.9:g.(?_12757434)_(12780217_?)del
NC_000019.9:g.(?_12760707)_(12761056_?)del
NC_000019.9:g.(?_12762947)_(12769344_?)del
NC_000019.9:g.(?_12762947)_(12772210_?)del
NC_000019.9:g.(?_12767365)_(12769344_?)del
NC_000019.9:g.(?_12768857)_(12780217_?)del
NC_000019.9:g.(?_12768867)_(12769334_?)del
NC_000019.9:g.(?_12774121)_(12774659_?)del
NC_000019.9:g.(?_12775596)_(12777525_?)del
NC_000020.10:g.(?_44519965)_(44751017_?)del
NC_000022.10:g.(?_42456283)_(42463314_?)del
NC_000022.10:g.(?_42456283)_(42466301_?)del
NC_000022.10:g.(?_42456908)_(42459048_?)del
NC_000022.10:g.(?_42461722)_(42464598_?)del
NG_013346.1:g.(24722_27196)_(28294_?)del
NM_000027.4(AGA):c.1018G>T (p.Glu340Ter)
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla) rs386833418
NM_000027.4(AGA):c.128-2A>G rs2111022003
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.187dup (p.Met63fs) rs2111021738
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.202C>T (p.Gln68Ter) rs1560950756
NM_000027.4(AGA):c.210del (p.Asp70fs) rs1736955435
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer) rs1560950739
NM_000027.4(AGA):c.268dup (p.Met90fs) rs2111021475
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
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.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.389_390del (p.Glu130fs)
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.454C>T (p.Gln152Ter) rs991950983
NM_000027.4(AGA):c.509dup (p.Asn170fs) rs2111015936
NM_000027.4(AGA):c.519dup (p.Asp174fs) rs2111015862
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.555_558del (p.Gly186fs) rs1736861131
NM_000027.4(AGA):c.55del (p.Ala19fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.665del (p.Thr222fs)
NM_000027.4(AGA):c.698+1del rs2111013273
NM_000027.4(AGA):c.797dup (p.Leu267fs)
NM_000027.4(AGA):c.800del (p.Leu267fs) rs794728009
NM_000027.4(AGA):c.859C>T (p.Gln287Ter) rs1736687730
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
NM_000027.4(AGA):c.88dup (p.Val30fs)
NM_000027.4(AGA):c.904G>A (p.Gly302Arg) rs121964905
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.9del (p.Lys4fs)
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000147.5(FUCA1):c.1123del (p.Trp375fs)
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter)
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter) rs80358197
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter)
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) rs764863416
NM_000147.5(FUCA1):c.1260+2T>A
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs) rs1186488065
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs)
NM_000147.5(FUCA1):c.170del (p.Lys57fs) rs1639663980
NM_000147.5(FUCA1):c.191G>A (p.Trp64Ter)
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) rs1639662981
NM_000147.5(FUCA1):c.237del (p.Trp79fs) rs1639662557
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter)
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter)
NM_000147.5(FUCA1):c.293dup (p.Pro99fs)
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs)
NM_000147.5(FUCA1):c.390-95_768+150del
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) rs781230182
NM_000147.5(FUCA1):c.437del (p.Pro146fs)
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe) rs587779398
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter)
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter)
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000147.5(FUCA1):c.577dup (p.Tyr193fs)
NM_000147.5(FUCA1):c.607del (p.Thr203fs)
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs)
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter) rs80358198
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
NM_000147.5(FUCA1):c.662+5G>C rs941666554
NM_000147.5(FUCA1):c.671del (p.Pro224fs) rs2148446020
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs)
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter)
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
NM_000147.5(FUCA1):c.768+1G>A rs1639468949
NM_000147.5(FUCA1):c.7del (p.Ala3fs) rs1639669672
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter)
NM_000147.5(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.5(FUCA1):c.82del (p.Val28fs) rs1639666186
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) rs201499886
NM_000147.5(FUCA1):c.969+1G>A rs1570679652
NM_000147.5(FUCA1):c.969+1G>T
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu) rs1177361428
NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)
NM_000262.3(NAGA):c.1047T>G (p.Tyr349Ter)
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
NM_000262.3(NAGA):c.190C>T (p.Gln64Ter)
NM_000262.3(NAGA):c.319_322dup (p.Tyr108Ter)
NM_000262.3(NAGA):c.324C>A (p.Tyr108Ter)
NM_000262.3(NAGA):c.324del (p.Asp107_Tyr108insTer)
NM_000262.3(NAGA):c.354del (p.Tyr119fs)
NM_000262.3(NAGA):c.402_403del (p.Leu135fs)
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter) rs121434531
NM_000262.3(NAGA):c.606_607del (p.Tyr202_Ser203delinsTer)
NM_000262.3(NAGA):c.635G>A (p.Trp212Ter)
NM_000262.3(NAGA):c.639dup (p.Asn214Ter)
NM_000262.3(NAGA):c.655C>T (p.Gln219Ter)
NM_000262.3(NAGA):c.665G>A (p.Trp222Ter)
NM_000262.3(NAGA):c.666G>A (p.Trp222Ter)
NM_000262.3(NAGA):c.667del (p.Trp223fs)
NM_000262.3(NAGA):c.70C>T (p.Gln24Ter)
NM_000262.3(NAGA):c.756_757del (p.Met253fs)
NM_000262.3(NAGA):c.793C>T (p.Gln265Ter)
NM_000262.3(NAGA):c.839del (p.Leu280fs)
NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)
NM_000262.3(NAGA):c.892C>T (p.Gln298Ter)
NM_000262.3(NAGA):c.968_969del (p.Leu323fs)
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.1035C>A (p.Tyr345Ter)
NM_000308.4(CTSA):c.1063C>T (p.Gln355Ter)
NM_000308.4(CTSA):c.1104dup (p.Gln369fs) rs2083116648
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
NM_000308.4(CTSA):c.1106del (p.Gln369fs)
NM_000308.4(CTSA):c.112del (p.Leu38fs) rs1241378191
NM_000308.4(CTSA):c.1184A>G (p.Tyr395Cys) rs137854543
NM_000308.4(CTSA):c.1215_1216insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCATGGCCTGCAATTTC (p.Phe405_Met406insPhePhePhePhePhePheXaaXaaXaaXaaGluGlyLeuLeuThrSerGlnLysGlyArgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyMetAlaCysAsnPhe)
NM_000308.4(CTSA):c.1294del (p.Asp432fs)
NM_000308.4(CTSA):c.1306C>T (p.Gln436Ter) rs2145824370
NM_000308.4(CTSA):c.130C>T (p.Gln44Ter) rs1311180360
NM_000308.4(CTSA):c.143del (p.Arg48fs)
NM_000308.4(CTSA):c.15_19dup (p.Pro7fs)
NM_000308.4(CTSA):c.188del (p.His63fs)
NM_000308.4(CTSA):c.193T>C (p.Trp65Arg) rs28934603
NM_000308.4(CTSA):c.230del (p.Pro77fs) rs587779402
NM_000308.4(CTSA):c.242G>A (p.Trp81Ter)
NM_000308.4(CTSA):c.253_254dup (p.Pro86fs)
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) rs137854542
NM_000308.4(CTSA):c.275_278del (p.Asp92fs)
NM_000308.4(CTSA):c.31_34del (p.Leu11fs)
NM_000308.4(CTSA):c.350G>A (p.Trp117Ter)
NM_000308.4(CTSA):c.376del (p.Leu126fs)
NM_000308.4(CTSA):c.463G>T (p.Glu155Ter)
NM_000308.4(CTSA):c.501C>G (p.Tyr167Ter)
NM_000308.4(CTSA):c.517_518del (p.Phe173fs) rs769812697
NM_000308.4(CTSA):c.518del (p.Phe173fs)
NM_000308.4(CTSA):c.580G>A (p.Asp194Asn) rs2145816069
NM_000308.4(CTSA):c.595del (p.Leu199fs) rs786205670
NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
NM_000308.4(CTSA):c.692+3A>G rs786200859
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) rs875989777
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
NM_000308.4(CTSA):c.873T>G (p.Tyr291Ter)
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter) rs200565348
NM_000308.4(CTSA):c.94C>T (p.Gln32Ter)
NM_000308.4(CTSA):c.963_964del (p.Gly322_Asp323insTer)
NM_000308.4(CTSA):c.990dup (p.Cys331fs) rs758642867
NM_000434.4(NEU1):c.1021+1G>C rs1486980139
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys) rs1310267862
NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter) rs104893971
NM_000434.4(NEU1):c.114_115del (p.Leu40fs) rs754405067
NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter) rs746607723
NM_000434.4(NEU1):c.1208del (p.Ser403fs)
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) rs104893972
NM_000434.4(NEU1):c.353-2A>G rs864309513
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000434.4(NEU1):c.625del (p.Glu209fs) rs1581820081
NM_000434.4(NEU1):c.674G>C (p.Arg225Pro) rs104893980
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) rs104893986
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) rs104893984
NM_000434.4(NEU1):c.880C>T (p.Arg294Cys)
NM_000434.4(NEU1):c.946C>T (p.Pro316Ser) rs104893979
NM_000528.4(MAN2B1):c.103_106del (p.Leu35fs)
NM_000528.4(MAN2B1):c.1048dup (p.His350fs) rs2145262260
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs) rs2024251717
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs) rs2024028589
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs) rs2145261994
NM_000528.4(MAN2B1):c.1109+1G>C rs2024027294
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter) rs767768982
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs)
NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter)
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs) rs753695099
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs) rs2024020274
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter) rs2024019978
NM_000528.4(MAN2B1):c.1278del (p.Tyr428fs)
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.1310-2A>G
NM_000528.4(MAN2B1):c.131del (p.Ala44fs)
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs) rs2145256864
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs) rs771647137
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs)
NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs) rs2145254277
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs)
NM_000528.4(MAN2B1):c.1527+1G>T
NM_000528.4(MAN2B1):c.1527+2T>G rs2145254041
NM_000528.4(MAN2B1):c.1534del (p.Val512fs) rs2023968643
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
NM_000528.4(MAN2B1):c.1583_1599dup (p.Val534fs)
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs) rs2145290975
NM_000528.4(MAN2B1):c.1644+4A>G rs1218254964
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter) rs376719984
NM_000528.4(MAN2B1):c.1667_1670del (p.Asp556fs)
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs) rs2145290929
NM_000528.4(MAN2B1):c.1694del (p.Leu565fs)
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs) rs2145250113
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter) rs2145250103
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs)
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.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter) rs756680048
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter) rs2023854692
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)
NM_000528.4(MAN2B1):c.2113_2114delinsTA (p.Pro705Ter)
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs)
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs) rs2145290731
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
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.2212del (p.Glu738fs) rs1555706706
NM_000528.4(MAN2B1):c.2237_2240del (p.Asp746fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs) rs2023782686
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs)
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs)
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.237_238del (p.Lys79fs) rs2145290586
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs) rs1347035611
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
NM_000528.4(MAN2B1):c.2437-2A>C
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.2469_2478del (p.Gly824fs) rs2145225759
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter) rs2024217737
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter)
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs) rs2145225515
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs) rs2145225250
NM_000528.4(MAN2B1):c.2555_2586del (p.Ala852fs)
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs) rs2023745479
NM_000528.4(MAN2B1):c.256dup (p.Tyr86fs) rs2024217430
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs)
NM_000528.4(MAN2B1):c.262+1G>C rs2145290458
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs) rs2145224416
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs) rs1599338484
NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs) rs2145221516
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs)
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter) rs757072948
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter) rs2024210372
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs) rs1735642901
NM_000528.4(MAN2B1):c.2970del (p.Thr991fs)
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter) rs2145289566
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs)
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter) rs1555709972
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter) rs1366682636
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)
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.465G>A (p.Trp155Ter)
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer) rs2024192356
NM_000528.4(MAN2B1):c.469del (p.Val156_Met157insTer)
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs) rs2145287284
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter) rs771479314
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter)
NM_000528.4(MAN2B1):c.522del (p.Leu176fs)
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs) rs1057516810
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs) rs2145294424
NM_000528.4(MAN2B1):c.561del (p.Arg188fs) rs770297337
NM_000528.4(MAN2B1):c.579G>A (p.Trp193Ter)
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs)
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs)
NM_000528.4(MAN2B1):c.624dup (p.Ala209fs)
NM_000528.4(MAN2B1):c.627_630+1dup rs2145286437
NM_000528.4(MAN2B1):c.632del (p.Met211fs)
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter) rs2145294443
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs)
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)
NM_000528.4(MAN2B1):c.709C>T (p.Gln237Ter)
NM_000528.4(MAN2B1):c.764-1G>C rs1555709533
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter) rs2024155693
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs) rs2024151949
NM_000528.4(MAN2B1):c.909+1G>A
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer) rs778131120
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs) rs2145272932
NM_000528.4(MAN2B1):c.9del (p.Tyr4fs) rs2145294851
NM_005908.4(MANBA):c.1018del (p.Ser340fs)
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs)
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter) rs121434336
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter) rs1208178394
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs) rs764364492
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs) rs1188116333
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
NM_005908.4(MANBA):c.1511_1512insAATA (p.Ser505fs) rs760992372
NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro) rs121434334
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs) rs775574131
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
NM_005908.4(MANBA):c.1705-1G>A rs1730296951
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
NM_005908.4(MANBA):c.177+2T>C rs779221957
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter) rs371368353
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter)
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter)
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter) rs121434335
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
NM_005908.4(MANBA):c.386del (p.Asp129fs)
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
NM_005908.4(MANBA):c.63_64del (p.Ser22fs)
NM_005908.4(MANBA):c.646_647insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATATTTGTCACCTGA (p.Asn216delinsArgGluGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer)
NM_005908.4(MANBA):c.651C>G (p.Tyr217Ter)
NM_005908.4(MANBA):c.677del (p.Lys226fs)
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
NM_005908.4(MANBA):c.780dup (p.Gln261fs)
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
NM_005908.4(MANBA):c.819del (p.Ile274fs)
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter)
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
NM_005908.4(MANBA):c.916del (p.Leu306fs)

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