ClinVar Miner

List of variants reported as pathogenic for Non-ketotic hyperglycinemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 393
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg) rs386833549 0.00004
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg) rs386833553 0.00004
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met) rs386833560 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly) rs188269735 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile) rs751822565 0.00002
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg) rs772871471 0.00002
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu) rs367987650 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000481.4(AMT):c.248A>G (p.His83Arg) rs1467607949 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter) rs769222264 0.00002
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr) rs373263202 0.00001
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1145G>A (p.Cys382Tyr) rs759133707 0.00001
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn) rs151163582 0.00001
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp) rs761957837 0.00001
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln) rs386833524 0.00001
NM_000170.3(GLDC):c.1401+1G>A rs1211616091 0.00001
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp) rs1286882965 0.00001
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln) rs747853668 0.00001
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr) rs1366947118 0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529 0.00001
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter) rs386833531 0.00001
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter) rs1251538998 0.00001
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter) rs751025203 0.00001
NM_000170.3(GLDC):c.2186del (p.Ala729fs) rs386833543 0.00001
NM_000170.3(GLDC):c.2315+1G>T rs1252460597 0.00001
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter) rs373618804 0.00001
NM_000170.3(GLDC):c.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val) rs121964977 0.00001
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val) rs1275684568 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 0.00001
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter) rs1410625190 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_000170.3(GLDC):c.2919+1G>A rs386833575 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu) rs386833576 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000170.3(GLDC):c.538C>T (p.Gln180Ter) rs762989914 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu) rs138484426 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.317T>C (p.Ile106Thr) rs1249645541 0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.46C>T (p.Gln16Ter) rs2049124862 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His) rs562695274 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 0.00001
NM_000481.4(AMT):c.847C>T (p.Pro283Ser) rs771214835 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_032316.3(NICN1):c.*2325C>T rs753743263 0.00001
GCSH, COMPLEX REARRANGEMENT
NC_000003.11:g.(?_49454201)_(49457785_?)del
NC_000003.12:g.(?_49421482)_(49424348_?)del
NC_000009.11:g.(6620320_6644613)_(6645693_?)del
NC_000009.11:g.(?_6533007)_(6558694_?)del
NC_000009.11:g.(?_6533007)_(6565439_?)del
NC_000009.11:g.(?_6533007)_(6645509_?)del
NC_000009.11:g.(?_6533017)_(6595139_?)del
NC_000009.11:g.(?_6533017)_(6620339_?)del
NC_000009.11:g.(?_6533017)_(6645499_?)del
NC_000009.11:g.(?_6534707)_(6538467_?)del
NC_000009.11:g.(?_6540041)_(6620329_?)del
NC_000009.11:g.(?_6549859)_(6553343_?)del
NC_000009.11:g.(?_6550783)_(6554801_?)del
NC_000009.11:g.(?_6550783)_(6645499_?)del
NC_000009.11:g.(?_6550783)_(6645519_?)del
NC_000009.11:g.(?_6550793)_(6620329_?)del
NC_000009.11:g.(?_6554649)_(6554801_?)del
NC_000009.11:g.(?_6565334)_(6565449_?)dup
NC_000009.11:g.(?_6587121)_(6595139_?)del
NC_000009.11:g.(?_6587131)_(6589302_?)del
NC_000009.11:g.(?_6587131)_(6595129_?)del
NC_000009.11:g.(?_6587131)_(6602215_?)del
NC_000009.11:g.(?_6587131)_(6610366_?)del
NC_000009.11:g.(?_6587131)_(6620329_?)del
NC_000009.11:g.(?_6587131)_(6645509_?)del
NC_000009.11:g.(?_6587181)_(6602209_?)del
NC_000009.11:g.(?_6592123)_(6645499_?)del
NC_000009.11:g.(?_6602018)_(6606679_?)del
NC_000009.11:g.(?_6602018)_(6610366_?)del
NC_000009.11:g.(?_6602089)_(6605298_?)del
NC_000009.11:g.(?_6602089)_(6620339_?)del
NC_000009.11:g.(?_6602089)_(6645499_?)del
NC_000009.11:g.(?_6604578)_(6606679_?)del
NC_000009.11:g.(?_6604578)_(6645509_?)del
NC_000009.11:g.(?_6606582)_(6610366_?)del
NC_000009.11:g.(?_6610182)_(6610366_?)del
NC_000009.11:g.(?_6610182)_(6620329_?)del
NC_000009.11:g.(?_6610182)_(6645509_?)del
NC_000009.11:g.(?_6620174)_(6620329_?)dup
NC_000009.11:g.(?_6620184)_(6645307_?)del
NC_000009.11:g.(?_6644594)_(6645499_?)del
NC_000009.12:g.(?_6532997)_(6645519_?)del
NC_000009.12:g.(?_6533007)_(6610366_?)del
NC_000009.12:g.(?_6550783)_(6620339_?)del
NC_000009.12:g.(?_6550793)_(6610366_?)del
NC_000009.12:g.(?_6558539)_(6565449_?)del
NC_000009.12:g.(?_6558539)_(6645519_?)del
NC_000009.12:g.(?_6587121)_(6606689_?)del
NC_000009.12:g.(?_6587121)_(6645519_?)del
NC_000009.12:g.(?_6587131)_(6606679_?)del
NC_000009.12:g.(?_6592841)_(6620329_?)del
NC_000009.12:g.(?_6595004)_(6620329_?)del
NC_000009.12:g.(?_6604568)_(6645519_?)del
NC_000009.12:g.(?_6606572)_(6606689_?)del
NC_000009.12:g.(?_6606582)_(6606679_?)del
NC_000009.12:g.(?_6610172)_(6645519_?)del
NC_000009.12:g.(?_6620164)_(6620339_?)del
NC_000009.12:g.(?_6620174)_(6620329_?)del
NC_000009.12:g.(?_6620174)_(6645509_?)del
NC_000009.12:g.(?_6644594)_(6645519_?)del
NC_000009.12:g.(?_6644604)_(6645509_?)del
NC_000016.10:g.(?_81082846)_(81096298_?)del
NC_000016.9:g.(?_81121196)_(81129883_?)del
NM_000170.3(GLDC):c.1002dup (p.Ala335fs) rs386833516
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser) rs1818691758
NM_000170.3(GLDC):c.1051del (p.Gly350_Val351insTer) rs2129895643
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1058+2T>A rs1587959976
NM_000170.3(GLDC):c.1058+2T>C
NM_000170.3(GLDC):c.1083T>G (p.Tyr361Ter) rs2129885505
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.3(GLDC):c.1096C>T (p.Gln366Ter)
NM_000170.3(GLDC):c.1097A>G (p.Gln366Arg)
NM_000170.3(GLDC):c.1108C>A (p.Gln370Lys) rs570097430
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln) rs2129885269
NM_000170.3(GLDC):c.1142T>C (p.Ile381Thr) rs775502762
NM_000170.3(GLDC):c.1143del (p.Cys382fs)
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)
NM_000170.3(GLDC):c.122del (p.Gly41fs) rs2130032358
NM_000170.3(GLDC):c.1256C>G (p.Ser419Ter) rs1227030484
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter) rs1818407147
NM_000170.3(GLDC):c.1293del (p.His431fs)
NM_000170.3(GLDC):c.1337del (p.Val446fs) rs1587951033
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.3(GLDC):c.1411T>C (p.Ser471Pro) rs2129850481
NM_000170.3(GLDC):c.1438del (p.Asp480fs)
NM_000170.3(GLDC):c.1444dup (p.Asp482fs) rs386833526
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1580+1G>C
NM_000170.3(GLDC):c.1580+2T>G rs1554646710
NM_000170.3(GLDC):c.1580G>C (p.Ser527Thr) rs1247180998
NM_000170.3(GLDC):c.1581-42_1665+5del rs2129837171
NM_000170.3(GLDC):c.1611C>A (p.Tyr537Ter)
NM_000170.3(GLDC):c.1611C>G (p.Tyr537Ter) rs1818317328
NM_000170.3(GLDC):c.1629del (p.Asn543fs) rs1345599468
NM_000170.3(GLDC):c.1636del (p.Ile546fs) rs1818316799
NM_000170.3(GLDC):c.1638_1655del (p.Ile546_Ser551del)
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1665+1G>A rs267602258
NM_000170.3(GLDC):c.1678A>G (p.Met560Val) rs1818312039
NM_000170.3(GLDC):c.1709del (p.Pro570fs)
NM_000170.3(GLDC):c.1718G>A (p.Trp573Ter) rs959935793
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter) rs1818289368
NM_000170.3(GLDC):c.1789G>T (p.Glu597Ter) rs2129831711
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp) rs2129831435
NM_000170.3(GLDC):c.1850+1G>T rs774099283
NM_000170.3(GLDC):c.1851-1G>A
NM_000170.3(GLDC):c.1852G>T (p.Gly618Ter) rs758575745
NM_000170.3(GLDC):c.1862del (p.Gly621fs) rs1449126451
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs) rs772068893
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro) rs763517274
NM_000170.3(GLDC):c.1896C>G (p.Tyr632Ter) rs1272244088
NM_000170.3(GLDC):c.1898T>G (p.Leu633Ter) rs2129758221
NM_000170.3(GLDC):c.1903C>T (p.Gln635Ter) rs2129758198
NM_000170.3(GLDC):c.1944del (p.Lys648fs)
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.3(GLDC):c.2019T>A (p.Tyr673Ter) rs774506115
NM_000170.3(GLDC):c.209C>G (p.Pro70Arg) rs776730073
NM_000170.3(GLDC):c.209del (p.Pro70fs)
NM_000170.3(GLDC):c.2113del (p.Val705fs) rs2129726392
NM_000170.3(GLDC):c.2134_2135insT (p.Asp712fs)
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter) rs779434645
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter) rs147951756
NM_000170.3(GLDC):c.2176del (p.Tyr725_Leu726insTer) rs2129725961
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2183G>A (p.Gly728Glu)
NM_000170.3(GLDC):c.2203-1G>A
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2203-2A>T
NM_000170.3(GLDC):c.2225_2232del (p.Asp742fs) rs1817584930
NM_000170.3(GLDC):c.2236G>C (p.Asp746His)
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2278dup (p.His760fs) rs1563834980
NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.3(GLDC):c.2288G>A (p.Gly763Asp) rs1374110692
NM_000170.3(GLDC):c.2310del (p.Ile770fs) rs2129719586
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2315+2T>G rs1554643738
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000170.3(GLDC):c.238C>T (p.Gln80Ter)
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs) rs755313904
NM_000170.3(GLDC):c.2445G>A (p.Trp815Ter) rs2129714616
NM_000170.3(GLDC):c.2455A>G (p.Lys819Glu) rs1587922096
NM_000170.3(GLDC):c.2458-2A>G rs1259354298
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp) rs386833559
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter) rs1447727878
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter) rs1209943477
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter) rs1163356968
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
NM_000170.3(GLDC):c.251del (p.Leu84fs) rs2130031690
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter) rs770743220
NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.3(GLDC):c.2594del (p.Leu865fs)
NM_000170.3(GLDC):c.2596G>C (p.Asp866His) rs2129663304
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter) rs765893483
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val) rs386833566
NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro)
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter) rs386833567
NM_000170.3(GLDC):c.2665+1G>A rs149070244
NM_000170.3(GLDC):c.2665+1G>T
NM_000170.3(GLDC):c.2691G>A (p.Trp897Ter) rs2129649998
NM_000170.3(GLDC):c.2720C>T (p.Pro907Leu) rs2129649871
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile) rs1817122724
NM_000170.3(GLDC):c.2770_2774del (p.Ile924fs)
NM_000170.3(GLDC):c.2778del (p.Arg927fs)
NM_000170.3(GLDC):c.2782C>T (p.Gln928Ter)
NM_000170.3(GLDC):c.2791del (p.Ala931fs)
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2824del (p.Val942fs) rs2129649366
NM_000170.3(GLDC):c.2838+1G>A rs542056100
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.2838+5G>T
NM_000170.3(GLDC):c.2841dup (p.Ser948fs)
NM_000170.3(GLDC):c.2870_2909del (p.Ser957fs) rs2129645235
NM_000170.3(GLDC):c.2876_2877del (p.His959fs) rs2129645358
NM_000170.3(GLDC):c.2885G>C (p.Arg962Pro)
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.2919+1G>C rs386833575
NM_000170.3(GLDC):c.2919+5G>T rs768091555
NM_000170.3(GLDC):c.291del (p.Asn98fs) rs2130029354
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.2978_2979del (p.Tyr993fs)
NM_000170.3(GLDC):c.2978dup (p.Tyr993Ter)
NM_000170.3(GLDC):c.2986C>T (p.Gln996Ter) rs1296191006
NM_000170.3(GLDC):c.2T>A (p.Met1Lys) rs121964978
NM_000170.3(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000170.3(GLDC):c.307dup (p.Arg103fs) rs2130029302
NM_000170.3(GLDC):c.319del (p.Met107fs)
NM_000170.3(GLDC):c.322G>T (p.Glu108Ter) rs2130029228
NM_000170.3(GLDC):c.331_332insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGGAAGACCCTG (p.Val111delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_000170.3(GLDC):c.334+1G>C rs978795483
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.356_362del (p.Thr119fs)
NM_000170.3(GLDC):c.357_358insTAAACT (p.Leu120Ter) rs2129949245
NM_000170.3(GLDC):c.391A>T (p.Arg131Ter)
NM_000170.3(GLDC):c.395C>A (p.Ser132Ter)
NM_000170.3(GLDC):c.411_412insAATA (p.Tyr138fs) rs1563864784
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter) rs2129948971
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
NM_000170.3(GLDC):c.452T>G (p.Leu151Ter)
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter) rs386833579
NM_000170.3(GLDC):c.466G>C (p.Gly156Arg) rs1819058509
NM_000170.3(GLDC):c.470+1G>C
NM_000170.3(GLDC):c.478C>T (p.Gln160Ter) rs1264725941
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys) rs386833580
NM_000170.3(GLDC):c.490T>C (p.Tyr164His)
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter) rs746124283
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.3(GLDC):c.509_510del (p.Gln170fs) rs2129916678
NM_000170.3(GLDC):c.527del (p.Leu176fs) rs1563859767
NM_000170.3(GLDC):c.547del (p.Val183fs)
NM_000170.3(GLDC):c.573_574insA (p.Ala192fs)
NM_000170.3(GLDC):c.582_589del (p.Ser195fs)
NM_000170.3(GLDC):c.585_589del (p.Leu196fs)
NM_000170.3(GLDC):c.586del (p.Leu196fs) rs2129916327
NM_000170.3(GLDC):c.600del (p.Thr201fs) rs2129916293
NM_000170.3(GLDC):c.613del (p.Glu205fs) rs2129916235
NM_000170.3(GLDC):c.636-1G>T
NM_000170.3(GLDC):c.682C>T (p.Gln228Ter)
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter) rs386833585
NM_000170.3(GLDC):c.708_709del (p.Ala237fs)
NM_000170.3(GLDC):c.77C>A (p.Ser26Ter) rs2130032664
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.798C>G (p.Tyr266Ter) rs2129898271
NM_000170.3(GLDC):c.80_93del (p.Gly27fs)
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
NM_000170.3(GLDC):c.861+2T>A rs2129897960
NM_000170.3(GLDC):c.861+2T>C
NM_000170.3(GLDC):c.862-5_883del rs2129896575
NM_000170.3(GLDC):c.872G>A (p.Cys291Tyr) rs777632051
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter) rs1819724531
NM_000170.3(GLDC):c.90G>A (p.Trp30Ter)
NM_000170.3(GLDC):c.91del (p.Ala31fs)
NM_000170.3(GLDC):c.94_121del (p.Pro32fs)
NM_000170.3(GLDC):c.969_970dup (p.Leu324fs) rs1818693456
NM_000481.4(AMT):c.1033+1G>A
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000481.4(AMT):c.1033+2T>C rs1553638247
NM_000481.4(AMT):c.1040dup (p.Thr348fs)
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1079_1080del (p.Val360fs)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.10del (p.Ala4fs)
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer) rs2049020585
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.164G>A (p.Trp55Ter) rs1559530507
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.168_171del (p.Leu57fs) rs2107937574
NM_000481.4(AMT):c.16del (p.Ser6fs) rs1553638907
NM_000481.4(AMT):c.178C>T (p.Gln60Ter) rs2107937536
NM_000481.4(AMT):c.20_21del (p.Val7fs) rs1575309867
NM_000481.4(AMT):c.221del (p.Gln74fs) rs2107937370
NM_000481.4(AMT):c.224del (p.His75fs) rs2107937352
NM_000481.4(AMT):c.236_237del (p.Leu78_Phe79insTer)
NM_000481.4(AMT):c.250_251del (p.Met84fs)
NM_000481.4(AMT):c.256C>T (p.Gln86Ter) rs1575308888
NM_000481.4(AMT):c.257dup (p.Thr87fs) rs2107937267
NM_000481.4(AMT):c.259-2A>C rs748522054
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
NM_000481.4(AMT):c.2T>A (p.Met1Lys) rs1266259634
NM_000481.4(AMT):c.2T>C (p.Met1Thr) rs1266259634
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.534_535dup (p.Leu179fs)
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.59del (p.Pro20fs) rs386833686
NM_000481.4(AMT):c.59dup (p.Ala21fs) rs386833686
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_000481.4(AMT):c.609dup (p.Phe204fs) rs2107932226
NM_000481.4(AMT):c.645_646del (p.Ser216fs)
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)
NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)
NM_000481.4(AMT):c.714_724del (p.Gly239fs)
NM_000481.4(AMT):c.734_735del (p.Thr245fs) rs2049052992
NM_000481.4(AMT):c.74del (p.Pro25fs)
NM_000481.4(AMT):c.757del (p.Glu252_Val253insTer)
NM_000481.4(AMT):c.771del (p.Leu258fs)
NM_000481.4(AMT):c.815dup (p.Tyr273fs)
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter) rs2107931458
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)
NM_000481.4(AMT):c.965_966del (p.Gly322fs)
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067
NM_000481.4(AMT):c.999_1000del (p.His333fs)
NM_001164710.2(AMT):c.340-552del rs2107933839
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs) rs1972233022

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