ClinVar Miner

List of variants studied for Glycine encephalopathy 1

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ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00282
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000481.4(AMT):c.-76G>C rs544461335 0.00092
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.2147T>A (p.Leu716His) rs145018304 0.00031
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00030
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000170.3(GLDC):c.1927-4G>A rs576723612 0.00015
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser) rs375850752 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg) rs201049516 0.00008
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394 0.00007
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_000170.3(GLDC):c.2612A>G (p.Lys871Arg) rs766244892 0.00006
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
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_000481.4(AMT):c.-55C>T rs386833677 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 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.2305C>A (p.Pro769Thr) rs751114163 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.445C>T (p.Arg149Trp) rs183024300 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.142G>T (p.Gly48Trp) rs1057515608 0.00002
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly) rs755680488 0.00002
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile) rs751822565 0.00002
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro) rs386833589 0.00002
NM_000481.4(AMT):c.*86G>T rs745685639 0.00002
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189 0.00002
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg) rs1406713104 0.00001
NM_000170.3(GLDC):c.*5C>G rs764814250 0.00001
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr) rs373263202 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile) rs1473856167 0.00001
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile) rs1554647026 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.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.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu) rs751362463 0.00001
NM_000170.3(GLDC):c.1580+2T>G rs1554646710 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.1664T>G (p.Leu555Arg) rs765384489 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.1852G>A (p.Gly618Arg) rs758575745 0.00001
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter) rs751025203 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp) rs1817625926 0.00001
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter) rs373618804 0.00001
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val) rs121964977 0.00001
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559 0.00001
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530 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.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_000481.3(AMT):c.-66A>G rs1553638927 0.00001
NM_000481.4(AMT):c.-58C>T rs753743263 0.00001
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982 0.00001
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.259-2A>T rs748522054 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.471+2T>C rs386833684 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.84C>T (p.Cys28=) rs763223038 0.00001
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NC_000009.11:g.(?_6620184)_(6645307_?)del
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys) rs10975674
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter) rs570097430
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu) rs767200188
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter) rs1226098656
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter) rs1226098656
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter) rs777365335
NM_000170.3(GLDC):c.1402-13T>G rs2489084155
NM_000170.3(GLDC):c.1402-1G>C rs386833525
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu) rs761064507
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del) rs1554652793
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del) rs1554652791
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val) rs1554646653
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1708-1G>C
NM_000170.3(GLDC):c.1738C>G (p.His580Asp) rs1164241828
NM_000170.3(GLDC):c.1819G>A (p.Gly607Ser) rs1554646517
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del) rs1554652789
NM_000170.3(GLDC):c.1850+1G>T rs774099283
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.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.1912G>T (p.Glu638Ter)
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.1926+5G>C
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn) rs1301895668
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs) rs1196401015
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys) rs1554643929
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg) rs386833542
NM_000170.3(GLDC):c.2189del (p.Asn730fs) rs2489036171
NM_000170.3(GLDC):c.2194_2197del (p.Asn732fs)
NM_000170.3(GLDC):c.2202+5G>A
NM_000170.3(GLDC):c.2203-2A>G rs386833545
NM_000170.3(GLDC):c.2204_2205del (p.Val735fs)
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu) rs749882600
NM_000170.3(GLDC):c.223C>T (p.Gln75Ter)
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del) rs121964975
NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg) rs386833549
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.2315+2T>A rs1554643738
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter) rs1477860542
NM_000170.3(GLDC):c.2458-1G>T rs1554643370
NM_000170.3(GLDC):c.2458-2A>G rs1259354298
NM_000170.3(GLDC):c.2458A>G (p.Met820Val) rs781682244
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) rs1817497974
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.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys) rs925908885
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2666-1G>A rs1429861000
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu) rs759933539
NM_000170.3(GLDC):c.2768T>C (p.Met923Thr) rs2129649642
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2838+2T>C rs1554641887
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile) rs1214310966
NM_000170.3(GLDC):c.2849A>G (p.His950Arg)
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs) rs1554641737
NM_000170.3(GLDC):c.28del (p.Leu10fs) rs386833574
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000170.3(GLDC):c.2906del (p.Ala969fs)
NM_000170.3(GLDC):c.2919+1G>C rs386833575
NM_000170.3(GLDC):c.2933C>G (p.Pro978Arg)
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg) rs1057515605
NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter) rs1554641519
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.2998dup (p.Cys1000fs)
NM_000170.3(GLDC):c.2T>C (p.Met1Thr) rs121964978
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter) rs1444245039
NM_000170.3(GLDC):c.334+1G>C rs978795483
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.335-1G>C rs1554649675
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp) rs386833576
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys) rs376578742
NM_000170.3(GLDC):c.464C>G (p.Ser155Ter)
NM_000170.3(GLDC):c.471G>A (p.Trp157Ter)
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter) rs1554652870
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del) rs1222749984
NM_000170.3(GLDC):c.707G>A (p.Arg236Gln)
NM_000170.3(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.811G>A (p.Gly271Arg) rs1554648113
NM_000170.3(GLDC):c.851A>C (p.His284Pro) rs1210767970
NM_000170.3(GLDC):c.862-2A>G
NM_000170.3(GLDC):c.865C>G (p.Leu289Val) rs2489103268
NM_000170.3(GLDC):c.886C>T (p.Leu296Phe) rs200413149
NM_000170.3(GLDC):c.905T>A (p.Leu302Ter)
NM_000481.4(AMT):c.1033+2T>C rs1553638247
NM_000481.4(AMT):c.1033+2dup rs976598152
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer) rs2049020585
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.264_265dup (p.Ile89fs) rs2471158260
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.362A>G (p.Asn121Ser) rs2049078071
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.57_59dup (p.Pro20_Ala21insPro) rs386833686
NM_000481.4(AMT):c.695_696+21del rs1553638457
NM_000481.4(AMT):c.696+1G>A rs1553638460
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.91-1G>T rs2049119534
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter) rs760595654

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