ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Natera, Inc.

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 595
Download table as spreadsheet
HGVS dbSNP
NM_000027.4(AGA):c.*3C>T
NM_000027.4(AGA):c.*8T>C rs112307209
NM_000027.4(AGA):c.128-7dup
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
NM_000027.4(AGA):c.334A>G (p.Ile112Val)
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451
NM_000027.4(AGA):c.585T>C (p.His195=)
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.941-5C>T rs377622082
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly)
NM_000030.3(AGXT):c.424-4T>C rs369523966
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918
NM_000030.3(AGXT):c.795C>T (p.Pro265=) rs760015739
NM_000030.3(AGXT):c.846+5A>G
NM_000030.3(AGXT):c.876C>A (p.Arg292=) rs763852365
NM_000030.3(AGXT):c.882C>T (p.Ala294=)
NM_000030.3(AGXT):c.942G>A (p.Pro314=)
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=) rs566549564
NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg)
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.178G>A (p.Val60Ile)
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys)
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu)
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.191G>C (p.Gly64Ala)
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.597A>G (p.Thr199=)
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326
NM_000151.4(G6PC1):c.340+7G>A
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.888C>G (p.Leu296=) rs1266860369
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000152.5(GAA):c.*2C>T
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
NM_000152.5(GAA):c.1075+4G>A rs754290055
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
NM_000152.5(GAA):c.1194+3G>C rs368539333
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.167A>T (p.His56Leu)
NM_000152.5(GAA):c.1754+6G>C rs1282791373
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2803C>T (p.Leu935=)
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362
NM_000152.5(GAA):c.546+3G>A rs371405931
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr)
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr)
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.42C>G (p.Ala14=)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000155.4(GALT):c.*8G>A rs370285476
NM_000155.4(GALT):c.-11C>A
NM_000155.4(GALT):c.1116C>T (p.Asp372=) rs757314660
NM_000155.4(GALT):c.172G>A (p.Glu58Lys) rs1554709147
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.328+7T>C rs774350978
NM_000155.4(GALT):c.32G>A (p.Arg11His) rs757632977
NM_000155.4(GALT):c.377+7A>G rs376026879
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.715T>C (p.Trp239Arg) rs1336294207
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.820+4A>C rs398123186
NM_000155.4(GALT):c.851C>A (p.Thr284Asn) rs753364304
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser)
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
NM_000158.4(GBE1):c.1810G>A (p.Val604Met)
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.429+5T>G
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
NM_000158.4(GBE1):c.906G>A (p.Met302Ile)
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.355+9C>T
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.506+9C>T rs376523398
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466
NM_000199.5(SGSH):c.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346
NM_000203.5(IDUA):c.-2C>T
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
NM_000203.5(IDUA):c.1403-11A>G
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) rs776590488
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
NM_000203.5(IDUA):c.299+10G>A rs775172497
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723
NM_000203.5(IDUA):c.972+8G>A
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu)
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.678+4A>G
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys) rs759062849
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000289.6(PFKM):c.1063-5C>T rs758178966
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148
NM_000289.6(PFKM):c.1192-3_1192-2del
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752
NM_000528.4(MAN2B1):c.1109+10G>A
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=) rs559827776
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His) rs563097824
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1645-3G>A
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702
NM_000528.4(MAN2B1):c.2047-4G>A rs768347546
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr)
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu)
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg)
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=) rs146331898
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
NM_000642.3(AGL):c.1076_1078dup (p.Pro359dup)
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu) rs146493448
NM_000642.3(AGL):c.1424G>T (p.Gly475Val) rs538916479
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn) rs1365513585
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312
NM_000642.3(AGL):c.1864A>G (p.Met622Val) rs145517369
NM_000642.3(AGL):c.1899+3A>G
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.2002-5T>A
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys) rs771211030
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu) rs746130741
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu) rs149331873
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val) rs1225426505
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.368C>T (p.Pro123Leu)
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu) rs1324875747
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser) rs892629109
NM_000642.3(AGL):c.3845C>G (p.Ser1282Cys)
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly) rs777095374
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708
NM_000642.3(AGL):c.4259+3A>T
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile) rs143815159
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586
NM_000642.3(AGL):c.805A>G (p.Lys269Glu)
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648
NM_000642.3(AGL):c.921C>A (p.Asn307Lys)
NM_000925.4(PDHB):c.*7C>G
NM_000925.4(PDHB):c.-4C>T
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg)
NM_000925.4(PDHB):c.25C>A (p.Arg9=)
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.477A>C (p.Ser159=)
NM_000925.4(PDHB):c.501G>T (p.Gly167=) rs759053641
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.826A>T (p.Met276Leu)
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)
NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)
NM_000925.4(PDHB):c.847G>A (p.Val283Ile)
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914
NM_000925.4(PDHB):c.97-5G>A rs200429396
NM_001164277.1(SLC37A4):c.1012T>C (p.Phe338Leu) rs200662873
NM_001164277.1(SLC37A4):c.1018T>G (p.Phe340Val) rs1474838395
NM_001164277.1(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340
NM_001164277.1(SLC37A4):c.1252C>T (p.Arg418Cys) rs376140990
NM_001164277.1(SLC37A4):c.127C>T (p.Pro43Ser)
NM_001164277.1(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794
NM_001164277.1(SLC37A4):c.21C>G (p.Gly7=) rs370153031
NM_001164277.1(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065
NM_001164277.1(SLC37A4):c.29G>A (p.Arg10His)
NM_001164277.1(SLC37A4):c.492C>A (p.Ser164Arg) rs369399624
NM_001164277.1(SLC37A4):c.590G>A (p.Arg197His) rs377180238
NM_001164277.1(SLC37A4):c.611C>T (p.Ser204Phe) rs567419206
NM_001164277.1(SLC37A4):c.631T>G (p.Leu211Val) rs537115620
NM_001164277.1(SLC37A4):c.700C>T (p.Leu234Phe) rs782616313
NM_001164277.1(SLC37A4):c.781G>A (p.Val261Ile) rs561701030
NM_001164277.1(SLC37A4):c.785-7A>G rs781887799
NM_001164277.1(SLC37A4):c.80A>G (p.Asn27Ser) rs782308530
NM_001164277.1(SLC37A4):c.857G>A (p.Arg286Gln) rs548684318
NM_001164277.1(SLC37A4):c.878T>C (p.Leu293Pro) rs886042302
NM_001164277.1(SLC37A4):c.891G>T (p.Gly297=)
NM_001164277.1(SLC37A4):c.955C>T (p.Arg319Trp)
NM_001164277.1(SLC37A4):c.993C>G (p.Ile331Met) rs1555190553
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
NM_001370658.1(BTD):c.-45A>T
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001467.6(SLC37A4):c.291C>G (p.Ser97Arg)
NM_001467.6(SLC37A4):c.703G>T (p.Val235Leu)
NM_002076.4(GNS):c.*3dup
NM_002076.4(GNS):c.1309-9T>C
NM_002076.4(GNS):c.1452C>T (p.Asp484=) rs1252524521
NM_002076.4(GNS):c.1578C>T (p.Pro526=) rs753472052
NM_002076.4(GNS):c.462C>T (p.Tyr154=)
NM_002076.4(GNS):c.624+10A>G rs757526895
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
NM_002076.4(GNS):c.793-9A>G rs780164582
NM_002076.4(GNS):c.850T>C (p.Phe284Leu)
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)
NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys)
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1239+8C>T rs886048461
NM_005609.4(PYGM):c.1239+9G>A rs374937711
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val)
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
NM_005609.4(PYGM):c.1403+5G>A
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812
NM_005609.4(PYGM):c.1620+6G>A
NM_005609.4(PYGM):c.1629G>A (p.Lys543=)
NM_005609.4(PYGM):c.1769-7T>C
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys) rs771016457
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
NM_005609.4(PYGM):c.2047A>G (p.Met683Val)
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys)
NM_005609.4(PYGM):c.2143C>A (p.Arg715=)
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
NM_005609.4(PYGM):c.2204G>A (p.Arg735His)
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
NM_005609.4(PYGM):c.346C>G (p.Leu116Val)
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr)
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-599G>T
NM_005609.4(PYGM):c.667C>G (p.Leu223Val)
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781
NM_005609.4(PYGM):c.780C>T (p.Val260=)
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) rs768576604
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys)
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
NM_005609.4(PYGM):c.999+9C>T rs183026465
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln)
NM_012203.2(GRHPR):c.384G>A (p.Glu128=) rs372351685
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser)
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
NM_033159.4(HYAL1):c.150C>T (p.Asp50=) rs377272298
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp) rs587774476
NM_033159.4(HYAL1):c.483T>C (p.Asp161=) rs368360137
NM_033159.4(HYAL1):c.551C>T (p.Ala184Val)
NM_033159.4(HYAL1):c.587G>A (p.Arg196His)
NM_033159.4(HYAL1):c.796G>A (p.Val266Met)
NM_033159.4(HYAL1):c.915C>T (p.His305=) rs1290078379
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala)
NM_138413.4(HOGA1):c.18C>T (p.Val6=) rs1589899135
NM_138413.4(HOGA1):c.216C>T (p.Phe72=) rs780606715
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys)
NM_138413.4(HOGA1):c.260G>C (p.Ser87Thr)
NM_138413.4(HOGA1):c.294G>A (p.Gln98=) rs777208958
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr)
NM_138413.4(HOGA1):c.341-8T>C
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=)
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val)
NM_138413.4(HOGA1):c.477T>C (p.Asp159=)
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699
NM_138413.4(HOGA1):c.701-7C>T
NM_138413.4(HOGA1):c.720C>T (p.Cys240=) rs183301169
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln)
NM_138413.4(HOGA1):c.771C>T (p.Cys257=) rs550989147
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr)
NM_138413.4(HOGA1):c.835-7T>A
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)

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