ClinVar Miner

List of variants reported as uncertain significance for DNA ligase IV deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 274
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.1739G>A (p.Arg580Gln) rs146616552 0.00037
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659 0.00036
NM_206937.2(LIG4):c.898G>A (p.Asp300Asn) rs143810759 0.00021
NM_206937.2(LIG4):c.1246G>T (p.Asp416Tyr) rs148273759 0.00013
NM_206937.2(LIG4):c.230G>A (p.Arg77Lys) rs199707115 0.00011
NM_206937.2(LIG4):c.1913T>C (p.Ile638Thr) rs372158210 0.00009
NM_206937.2(LIG4):c.2245T>C (p.Ser749Pro) rs138080550 0.00009
NM_206937.2(LIG4):c.2390C>T (p.Ala797Val) rs373272193 0.00009
NM_206937.2(LIG4):c.1604C>T (p.Pro535Leu) rs374074342 0.00008
NM_206937.2(LIG4):c.1756G>C (p.Asp586His) rs753492255 0.00008
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala) rs137899041 0.00008
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val) rs188422094 0.00007
NM_206937.2(LIG4):c.1437G>T (p.Met479Ile) rs529839175 0.00006
NM_206937.2(LIG4):c.1496T>C (p.Val499Ala) rs201683262 0.00006
NM_206937.2(LIG4):c.1847A>G (p.Tyr616Cys) rs778875030 0.00005
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095 0.00005
NM_206937.2(LIG4):c.381G>C (p.Met127Ile) rs61752350 0.00005
NM_206937.2(LIG4):c.1208T>C (p.Val403Ala) rs779305286 0.00004
NM_206937.2(LIG4):c.1607G>A (p.Ser536Asn) rs552242241 0.00004
NM_206937.2(LIG4):c.1831G>A (p.Ala611Thr) rs187323251 0.00004
NM_206937.2(LIG4):c.1855G>A (p.Gly619Ser) rs146381209 0.00004
NM_206937.2(LIG4):c.1954G>A (p.Val652Ile) rs754457967 0.00004
NM_206937.2(LIG4):c.2146A>G (p.Asn716Asp) rs377032117 0.00004
NM_206937.2(LIG4):c.2443C>T (p.Arg815Cys) rs375437614 0.00004
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu) rs141441003 0.00004
NM_206937.2(LIG4):c.2467T>C (p.Tyr823His) rs376657998 0.00004
NM_206937.2(LIG4):c.592G>A (p.Val198Ile) rs151152559 0.00004
NM_206937.2(LIG4):c.607A>G (p.Ile203Val) rs778278351 0.00004
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr) rs376108062 0.00004
NM_206937.2(LIG4):c.1061T>C (p.Met354Thr) rs780950741 0.00003
NM_206937.2(LIG4):c.1859A>G (p.Asp620Gly) rs748989188 0.00003
NM_206937.2(LIG4):c.2044A>C (p.Ile682Leu) rs375816915 0.00003
NM_206937.2(LIG4):c.2284G>A (p.Gly762Ser) rs751782058 0.00003
NM_206937.2(LIG4):c.2586T>A (p.His862Gln) rs201115578 0.00003
NM_206937.2(LIG4):c.293A>G (p.Asn98Ser) rs143897303 0.00003
NM_206937.2(LIG4):c.959A>G (p.Lys320Arg) rs757762017 0.00003
NM_206937.2(LIG4):c.1513C>T (p.Arg505Cys) rs375284799 0.00002
NM_206937.2(LIG4):c.1639G>A (p.Val547Ile) rs774811336 0.00002
NM_206937.2(LIG4):c.1751T>C (p.Ile584Thr) rs758274439 0.00002
NM_206937.2(LIG4):c.1792G>A (p.Asp598Asn) rs372708277 0.00002
NM_206937.2(LIG4):c.2119A>T (p.Ile707Phe) rs370991186 0.00002
NM_206937.2(LIG4):c.2267G>A (p.Arg756His) rs147410837 0.00002
NM_206937.2(LIG4):c.2339G>A (p.Gly780Glu) rs1029380670 0.00002
NM_206937.2(LIG4):c.2401T>G (p.Tyr801Asp) rs758462531 0.00002
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg) rs748716395 0.00002
NM_206937.2(LIG4):c.2657T>A (p.Phe886Tyr) rs142374894 0.00002
NM_206937.2(LIG4):c.526A>C (p.Thr176Pro) rs1211502925 0.00002
NM_206937.2(LIG4):c.878G>A (p.Arg293Gln) rs775560383 0.00002
NM_206937.2(LIG4):c.108C>G (p.Ile36Met) rs780698348 0.00001
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe) rs144322912 0.00001
NM_206937.2(LIG4):c.1171A>G (p.Ser391Gly) rs1357544473 0.00001
NM_206937.2(LIG4):c.1193G>A (p.Gly398Asp) rs538646268 0.00001
NM_206937.2(LIG4):c.1204A>G (p.Ile402Val) rs374180232 0.00001
NM_206937.2(LIG4):c.1231A>G (p.Lys411Glu) rs753182650 0.00001
NM_206937.2(LIG4):c.1244T>C (p.Ile415Thr) rs1216434992 0.00001
NM_206937.2(LIG4):c.1337G>C (p.Gly446Ala) rs199934893 0.00001
NM_206937.2(LIG4):c.1382A>G (p.Glu461Gly) rs2232640 0.00001
NM_206937.2(LIG4):c.1502A>G (p.His501Arg) rs370368065 0.00001
NM_206937.2(LIG4):c.1514G>A (p.Arg505His) rs138366433 0.00001
NM_206937.2(LIG4):c.1532C>G (p.Thr511Ser) rs377661143 0.00001
NM_206937.2(LIG4):c.1538A>G (p.Lys513Arg) rs538857114 0.00001
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe) rs3742212 0.00001
NM_206937.2(LIG4):c.1636G>A (p.Glu546Lys) rs1304694234 0.00001
NM_206937.2(LIG4):c.1696C>T (p.Pro566Ser) rs151324221 0.00001
NM_206937.2(LIG4):c.1720T>C (p.Cys574Arg) rs201308256 0.00001
NM_206937.2(LIG4):c.1730G>A (p.Arg577His) rs748301113 0.00001
NM_206937.2(LIG4):c.1759G>A (p.Asp587Asn) rs377478239 0.00001
NM_206937.2(LIG4):c.1807A>T (p.Arg603Trp) rs762041406 0.00001
NM_206937.2(LIG4):c.1849A>G (p.Ile617Val) rs1161384624 0.00001
NM_206937.2(LIG4):c.1876A>G (p.Lys626Glu) rs777285350 0.00001
NM_206937.2(LIG4):c.1883G>A (p.Arg628Gln) rs369138956 0.00001
NM_206937.2(LIG4):c.1918A>G (p.Ile640Val) rs1404206174 0.00001
NM_206937.2(LIG4):c.1922T>C (p.Ile641Thr) rs1165437263 0.00001
NM_206937.2(LIG4):c.1942A>C (p.Asn648His) rs1271457786 0.00001
NM_206937.2(LIG4):c.2035G>C (p.Glu679Gln) rs957569908 0.00001
NM_206937.2(LIG4):c.2050G>A (p.Glu684Lys) rs768218603 0.00001
NM_206937.2(LIG4):c.2197A>G (p.Lys733Glu) rs762817407 0.00001
NM_206937.2(LIG4):c.2210C>T (p.Pro737Leu) rs745416356 0.00001
NM_206937.2(LIG4):c.2273A>G (p.Tyr758Cys) rs778190953 0.00001
NM_206937.2(LIG4):c.2320C>G (p.Leu774Val) rs760371875 0.00001
NM_206937.2(LIG4):c.2404C>T (p.Arg802Trp) rs545309994 0.00001
NM_206937.2(LIG4):c.2405G>A (p.Arg802Gln) rs772551854 0.00001
NM_206937.2(LIG4):c.2537G>A (p.Arg846Gln) rs974517230 0.00001
NM_206937.2(LIG4):c.2611C>T (p.Arg871Cys) rs1423437711 0.00001
NM_206937.2(LIG4):c.2659A>G (p.Lys887Glu) rs780983005 0.00001
NM_206937.2(LIG4):c.32C>G (p.Ala11Gly) rs778524098 0.00001
NM_206937.2(LIG4):c.394G>T (p.Val132Leu) rs370586288 0.00001
NM_206937.2(LIG4):c.493G>A (p.Asp165Asn) rs1187318427 0.00001
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr) rs373262036 0.00001
NM_206937.2(LIG4):c.527C>T (p.Thr176Ile) rs1420503689 0.00001
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013 0.00001
NM_206937.2(LIG4):c.718A>G (p.Ile240Val) rs747189258 0.00001
NM_206937.2(LIG4):c.789G>C (p.Met263Ile) rs1295268527 0.00001
NM_206937.2(LIG4):c.854G>T (p.Gly285Val) rs764372392 0.00001
NM_206937.2(LIG4):c.919A>G (p.Thr307Ala) rs373471897 0.00001
NM_206937.2(LIG4):c.94C>T (p.Arg32Cys) rs770549827 0.00001
NM_206937.2(LIG4):c.97G>A (p.Ala33Thr) rs769286329 0.00001
NC_000013.10:g.(?_108857585)_(108860894_?)del
NC_000013.10:g.(?_108860861)_(108863636_?)dup
NC_000013.10:g.(?_108860881)_(108863616_?)dup
NM_206937.2(LIG4):c.1004A>G (p.Tyr335Cys)
NM_206937.2(LIG4):c.1113G>T (p.Met371Ile)
NM_206937.2(LIG4):c.1155G>C (p.Arg385Ser) rs2138975581
NM_206937.2(LIG4):c.1166T>G (p.Leu389Arg)
NM_206937.2(LIG4):c.1169GTA[1] (p.Ser391del)
NM_206937.2(LIG4):c.116T>G (p.Phe39Cys)
NM_206937.2(LIG4):c.117C>A (p.Phe39Leu) rs1414587110
NM_206937.2(LIG4):c.1192G>C (p.Gly398Arg)
NM_206937.2(LIG4):c.1193G>T (p.Gly398Val) rs538646268
NM_206937.2(LIG4):c.1199T>C (p.Ile400Thr) rs1878459563
NM_206937.2(LIG4):c.1223C>T (p.Ala408Val)
NM_206937.2(LIG4):c.1235A>C (p.Asn412Thr)
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser) rs781425152
NM_206937.2(LIG4):c.1246G>C (p.Asp416His)
NM_206937.2(LIG4):c.1247A>G (p.Asp416Gly) rs200912533
NM_206937.2(LIG4):c.1250C>G (p.Ala417Gly) rs2138974891
NM_206937.2(LIG4):c.1250C>T (p.Ala417Val) rs2138974891
NM_206937.2(LIG4):c.1265T>C (p.Ile422Thr)
NM_206937.2(LIG4):c.1289T>C (p.Met430Thr)
NM_206937.2(LIG4):c.1300C>T (p.Pro434Ser)
NM_206937.2(LIG4):c.1309A>C (p.Ile437Leu)
NM_206937.2(LIG4):c.1321G>A (p.Asp441Asn)
NM_206937.2(LIG4):c.1367G>A (p.Ser456Asn)
NM_206937.2(LIG4):c.1380T>A (p.Asp460Glu)
NM_206937.2(LIG4):c.1396A>G (p.Ile466Val) rs770386631
NM_206937.2(LIG4):c.1426C>T (p.Arg476Trp) rs747450004
NM_206937.2(LIG4):c.1435A>C (p.Met479Leu) rs2138973656
NM_206937.2(LIG4):c.1440G>A (p.Met480Ile) rs1878414694
NM_206937.2(LIG4):c.1481G>T (p.Gly494Val)
NM_206937.2(LIG4):c.1487A>G (p.Lys496Arg)
NM_206937.2(LIG4):c.1495G>A (p.Val499Met) rs767349135
NM_206937.2(LIG4):c.149A>G (p.His50Arg)
NM_206937.2(LIG4):c.1507C>G (p.Leu503Val) rs747572491
NM_206937.2(LIG4):c.1519G>C (p.Gly507Arg)
NM_206937.2(LIG4):c.1536G>A (p.Met512Ile) rs2138972988
NM_206937.2(LIG4):c.1542A>C (p.Glu514Asp) rs2138972951
NM_206937.2(LIG4):c.1598C>G (p.Ala533Gly)
NM_206937.2(LIG4):c.15A>T (p.Gln5His) rs1878635695
NM_206937.2(LIG4):c.1625C>T (p.Thr542Ile)
NM_206937.2(LIG4):c.1643A>G (p.Tyr548Cys)
NM_206937.2(LIG4):c.1693G>A (p.Val565Ile)
NM_206937.2(LIG4):c.1697C>A (p.Pro566His) rs1481289157
NM_206937.2(LIG4):c.1697C>T (p.Pro566Leu)
NM_206937.2(LIG4):c.1703A>G (p.Asp568Gly) rs202041497
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val) rs1878367870
NM_206937.2(LIG4):c.1708T>C (p.Tyr570His) rs2138971865
NM_206937.2(LIG4):c.1720_1721delinsCT (p.Cys574Leu) rs1594458075
NM_206937.2(LIG4):c.172A>G (p.Lys58Glu) rs1594465897
NM_206937.2(LIG4):c.1735C>T (p.Pro579Ser)
NM_206937.2(LIG4):c.1754G>T (p.Arg585Ile) rs1878357858
NM_206937.2(LIG4):c.1758T>A (p.Asp586Glu) rs1878354937
NM_206937.2(LIG4):c.1780A>C (p.Met594Leu) rs1878351126
NM_206937.2(LIG4):c.1828C>A (p.Leu610Ile)
NM_206937.2(LIG4):c.1835C>G (p.Ser612Cys)
NM_206937.2(LIG4):c.1839A>C (p.Lys613Asn)
NM_206937.2(LIG4):c.184G>A (p.Asp62Asn)
NM_206937.2(LIG4):c.1868C>G (p.Pro623Arg) rs1412566515
NM_206937.2(LIG4):c.1878_1880del (p.Lys627del)
NM_206937.2(LIG4):c.1888G>C (p.Ala630Pro) rs1262844792
NM_206937.2(LIG4):c.1891G>T (p.Ala631Ser)
NM_206937.2(LIG4):c.1916G>C (p.Gly639Ala)
NM_206937.2(LIG4):c.1918A>T (p.Ile640Phe) rs1404206174
NM_206937.2(LIG4):c.191T>C (p.Phe64Ser)
NM_206937.2(LIG4):c.1920T>G (p.Ile640Met)
NM_206937.2(LIG4):c.1932A>C (p.Leu644Phe) rs2138970296
NM_206937.2(LIG4):c.1939C>T (p.Pro647Ser) rs1035346047
NM_206937.2(LIG4):c.1940C>T (p.Pro647Leu) rs775265846
NM_206937.2(LIG4):c.1974A>G (p.Ile658Met)
NM_206937.2(LIG4):c.1982A>C (p.Asp661Ala) rs1391488834
NM_206937.2(LIG4):c.2032C>G (p.Leu678Val)
NM_206937.2(LIG4):c.2035G>A (p.Glu679Lys) rs957569908
NM_206937.2(LIG4):c.2038A>G (p.Asn680Asp) rs2138969607
NM_206937.2(LIG4):c.2042G>A (p.Arg681Lys)
NM_206937.2(LIG4):c.2046T>G (p.Ile682Met) rs2138969520
NM_206937.2(LIG4):c.204G>A (p.Met68Ile) rs1326374108
NM_206937.2(LIG4):c.2059G>A (p.Gly687Ser)
NM_206937.2(LIG4):c.208C>G (p.Leu70Val) rs193107403
NM_206937.2(LIG4):c.209T>C (p.Leu70Pro) rs2138980832
NM_206937.2(LIG4):c.2105C>G (p.Ala702Gly)
NM_206937.2(LIG4):c.2110T>C (p.Ser704Pro)
NM_206937.2(LIG4):c.2111C>G (p.Ser704Cys)
NM_206937.2(LIG4):c.2139T>G (p.Ile713Met) rs1878277031
NM_206937.2(LIG4):c.2143T>A (p.Ser715Thr)
NM_206937.2(LIG4):c.214C>A (p.Leu72Ile)
NM_206937.2(LIG4):c.2161G>A (p.Val721Ile)
NM_206937.2(LIG4):c.2189T>G (p.Phe730Cys)
NM_206937.2(LIG4):c.2193G>C (p.Lys731Asn) rs1878269517
NM_206937.2(LIG4):c.2216A>C (p.Gln739Pro)
NM_206937.2(LIG4):c.2224T>C (p.Phe742Leu) rs1878264184
NM_206937.2(LIG4):c.2234A>G (p.His745Arg) rs981096741
NM_206937.2(LIG4):c.2237T>C (p.Met746Thr)
NM_206937.2(LIG4):c.2239T>C (p.Cys747Arg) rs1878262100
NM_206937.2(LIG4):c.2266C>A (p.Arg756Ser) rs557203390
NM_206937.2(LIG4):c.2276A>G (p.Asp759Gly)
NM_206937.2(LIG4):c.2317C>A (p.Gln773Lys) rs1386691031
NM_206937.2(LIG4):c.2387T>G (p.Ile796Ser) rs903162818
NM_206937.2(LIG4):c.2388T>G (p.Ile796Met) rs1878236738
NM_206937.2(LIG4):c.2426C>T (p.Pro809Leu)
NM_206937.2(LIG4):c.2441G>T (p.Arg814Leu)
NM_206937.2(LIG4):c.2444G>A (p.Arg815His)
NM_206937.2(LIG4):c.2444G>T (p.Arg815Leu) rs574090677
NM_206937.2(LIG4):c.2449A>G (p.Thr817Ala)
NM_206937.2(LIG4):c.2462A>G (p.Asp821Gly)
NM_206937.2(LIG4):c.2465C>G (p.Ser822Trp)
NM_206937.2(LIG4):c.2468A>G (p.Tyr823Cys) rs751149500
NM_206937.2(LIG4):c.2470G>T (p.Ala824Ser)
NM_206937.2(LIG4):c.2480A>G (p.Asn827Ser) rs1878212620
NM_206937.2(LIG4):c.2482G>A (p.Asp828Asn)
NM_206937.2(LIG4):c.2486T>C (p.Leu829Pro) rs146597721
NM_206937.2(LIG4):c.2486T>G (p.Leu829Arg) rs146597721
NM_206937.2(LIG4):c.2492C>A (p.Thr831Asn) rs199526538
NM_206937.2(LIG4):c.2519T>C (p.Ile840Thr) rs2138966585
NM_206937.2(LIG4):c.2545G>A (p.Gly849Arg)
NM_206937.2(LIG4):c.2592A>G (p.Ile864Met) rs2138966110
NM_206937.2(LIG4):c.2596G>A (p.Gly866Arg)
NM_206937.2(LIG4):c.2609G>A (p.Ser870Asn)
NM_206937.2(LIG4):c.260C>G (p.Thr87Ser)
NM_206937.2(LIG4):c.2618C>G (p.Ala873Gly) rs1372817258
NM_206937.2(LIG4):c.2636GAA[1] (p.Arg880del) rs753650304
NM_206937.2(LIG4):c.2645T>C (p.Phe882Ser)
NM_206937.2(LIG4):c.2662A>C (p.Ile888Leu) rs148711190
NM_206937.2(LIG4):c.2662A>T (p.Ile888Phe) rs148711190
NM_206937.2(LIG4):c.2675G>T (p.Ser892Ile) rs1324979016
NM_206937.2(LIG4):c.2698A>C (p.Lys900Gln)
NM_206937.2(LIG4):c.280A>G (p.Ile94Val)
NM_206937.2(LIG4):c.283G>A (p.Glu95Lys) rs1878597472
NM_206937.2(LIG4):c.288G>C (p.Leu96Phe)
NM_206937.2(LIG4):c.308G>A (p.Gly103Glu) rs2138980358
NM_206937.2(LIG4):c.34T>G (p.Ser12Ala) rs554949695
NM_206937.2(LIG4):c.353C>G (p.Thr118Ser) rs2138980126
NM_206937.2(LIG4):c.467C>T (p.Ala156Val) rs1878574599
NM_206937.2(LIG4):c.482C>G (p.Ala161Gly) rs530696588
NM_206937.2(LIG4):c.506A>T (p.Lys169Met)
NM_206937.2(LIG4):c.529C>G (p.Gln177Glu) rs771448034
NM_206937.2(LIG4):c.533G>A (p.Ser178Asn) rs1878561624
NM_206937.2(LIG4):c.538G>A (p.Ala180Thr)
NM_206937.2(LIG4):c.53A>T (p.Asp18Val)
NM_206937.2(LIG4):c.56T>G (p.Leu19Trp)
NM_206937.2(LIG4):c.57G>C (p.Leu19Phe) rs762030781
NM_206937.2(LIG4):c.590G>C (p.Gly197Ala) rs779944478
NM_206937.2(LIG4):c.590G>T (p.Gly197Val)
NM_206937.2(LIG4):c.643C>T (p.His215Tyr) rs1327104442
NM_206937.2(LIG4):c.646_648del (p.Asn216del)
NM_206937.2(LIG4):c.65C>T (p.Thr22Ile)
NM_206937.2(LIG4):c.666A>C (p.Glu222Asp)
NM_206937.2(LIG4):c.689A>T (p.Asp230Val) rs1388798970
NM_206937.2(LIG4):c.712A>C (p.Ile238Leu)
NM_206937.2(LIG4):c.74G>A (p.Arg25Gln)
NM_206937.2(LIG4):c.755C>G (p.Ala252Gly) rs1368317630
NM_206937.2(LIG4):c.757A>G (p.Ile253Val)
NM_206937.2(LIG4):c.764A>G (p.Asp255Gly) rs2138978086
NM_206937.2(LIG4):c.767_768inv (p.Ile256Lys)
NM_206937.2(LIG4):c.773A>G (p.His258Arg)
NM_206937.2(LIG4):c.788T>C (p.Met263Thr)
NM_206937.2(LIG4):c.795_796delinsAA (p.His265_Gln266delinsGlnLys)
NM_206937.2(LIG4):c.800G>A (p.Ser267Asn) rs1878526562
NM_206937.2(LIG4):c.814A>T (p.Thr272Ser) rs2138977743
NM_206937.2(LIG4):c.836T>G (p.Met279Arg) rs1878520639
NM_206937.2(LIG4):c.842T>C (p.Met281Thr) rs1399378139
NM_206937.2(LIG4):c.856G>A (p.Asp286Asn) rs1878516885
NM_206937.2(LIG4):c.862T>C (p.Tyr288His) rs1878515448
NM_206937.2(LIG4):c.883G>A (p.Gly295Arg)
NM_206937.2(LIG4):c.884G>A (p.Gly295Glu)
NM_206937.2(LIG4):c.889A>G (p.Asn297Asp)
NM_206937.2(LIG4):c.892T>C (p.Tyr298His) rs1878508514
NM_206937.2(LIG4):c.895A>G (p.Thr299Ala)
NM_206937.2(LIG4):c.911C>T (p.Ala304Val) rs749198307
NM_206937.2(LIG4):c.916C>T (p.Pro306Ser) rs1378327726
NM_206937.2(LIG4):c.938C>T (p.Pro313Leu) rs2138976768
NM_206937.2(LIG4):c.949A>G (p.Asn317Asp) rs1566365677
NM_206937.2(LIG4):c.95G>A (p.Arg32His) rs777181224
NM_206937.2(LIG4):c.95G>T (p.Arg32Leu) rs777181224
NM_206937.2(LIG4):c.964G>A (p.Asp322Asn) rs1796952947
NM_206937.2(LIG4):c.989G>T (p.Gly330Val) rs1410858176

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