ClinVar Miner

List of variants in gene LIG4 reported as likely benign for DNA ligase IV deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 245
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.*562_*563insAAT rs112171260 0.03265
NM_206937.2(LIG4):c.*855_*856insTTTT rs146506306 0.03264
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_206937.2(LIG4):c.*614A>C rs3093771 0.00359
NM_206937.2(LIG4):c.-29+15T>G rs183107946 0.00310
NM_206937.2(LIG4):c.686A>G (p.His229Arg) rs142957638 0.00196
NM_206937.2(LIG4):c.2389G>T (p.Ala797Ser) rs138936350 0.00131
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_206937.2(LIG4):c.*34T>G rs369320737 0.00087
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196 0.00069
NM_206937.2(LIG4):c.1288A>T (p.Met430Leu) rs143618179 0.00053
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser) rs3093765 0.00048
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752 0.00044
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) rs199638675 0.00032
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn) rs35469724 0.00014
NM_206937.2(LIG4):c.2448C>T (p.His816=) rs368576780 0.00014
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val) rs200369995 0.00014
NM_206937.2(LIG4):c.-101-31A>G rs117159741 0.00010
NM_206937.2(LIG4):c.1891G>A (p.Ala631Thr) rs200385778 0.00010
NM_206937.2(LIG4):c.2655G>A (p.Lys885=) rs151271748 0.00009
NM_206937.2(LIG4):c.1830C>T (p.Leu610=) rs768563098 0.00006
NM_206937.2(LIG4):c.208C>T (p.Leu70=) rs193107403 0.00006
NM_206937.2(LIG4):c.2300T>C (p.Ile767Thr) rs750390328 0.00006
NM_206937.2(LIG4):c.2310C>T (p.Asp770=) rs776444477 0.00006
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) rs138021217 0.00006
NM_206937.2(LIG4):c.1560G>A (p.Leu520=) rs756164120 0.00004
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu) rs141441003 0.00004
NM_206937.2(LIG4):c.834T>C (p.Arg278=) rs375022046 0.00004
NM_206937.2(LIG4):c.1791C>T (p.Asp597=) rs144253952 0.00003
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) rs529756815 0.00003
NM_206937.2(LIG4):c.2355C>T (p.Asn785=) rs148223505 0.00003
NM_206937.2(LIG4):c.1065A>G (p.Val355=) rs754614183 0.00002
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) rs147181971 0.00002
NM_206937.2(LIG4):c.1458A>G (p.Ala486=) rs1422541942 0.00002
NM_206937.2(LIG4):c.1692C>T (p.Ile564=) rs750170673 0.00002
NM_206937.2(LIG4):c.1971T>C (p.Asn657=) rs764483419 0.00002
NM_206937.2(LIG4):c.2445C>A (p.Arg815=) rs755419375 0.00002
NM_206937.2(LIG4):c.570C>T (p.Ile190=) rs141102614 0.00002
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) rs535025599 0.00001
NM_206937.2(LIG4):c.1035G>A (p.Lys345=) rs1348072213 0.00001
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys) rs755358293 0.00001
NM_206937.2(LIG4):c.1239A>G (p.Glu413=) rs1342090676 0.00001
NM_206937.2(LIG4):c.1242A>C (p.Val414=) rs150828164 0.00001
NM_206937.2(LIG4):c.1353A>G (p.Lys451=) rs750628490 0.00001
NM_206937.2(LIG4):c.1509C>G (p.Leu503=) rs1878402671 0.00001
NM_206937.2(LIG4):c.1564T>C (p.Leu522=) rs752670480 0.00001
NM_206937.2(LIG4):c.1641A>C (p.Val547=) rs771151401 0.00001
NM_206937.2(LIG4):c.1686A>G (p.Ala562=) rs758102049 0.00001
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=) rs763222026 0.00001
NM_206937.2(LIG4):c.1884G>T (p.Arg628=) rs199635003 0.00001
NM_206937.2(LIG4):c.1953C>T (p.Asn651=) rs780588115 0.00001
NM_206937.2(LIG4):c.2202C>T (p.Ser734=) rs369333400 0.00001
NM_206937.2(LIG4):c.2289T>C (p.Asp763=) rs1371479521 0.00001
NM_206937.2(LIG4):c.2299A>G (p.Ile767Val) rs758471169 0.00001
NM_206937.2(LIG4):c.2451C>T (p.Thr817=) rs757299963 0.00001
NM_206937.2(LIG4):c.2643T>C (p.Thr881=) rs749470898 0.00001
NM_206937.2(LIG4):c.321C>T (p.Leu107=) rs751434618 0.00001
NM_206937.2(LIG4):c.394G>T (p.Val132Leu) rs370586288 0.00001
NM_206937.2(LIG4):c.39C>T (p.His13=) rs1238224483 0.00001
NM_206937.2(LIG4):c.411T>C (p.Cys137=) rs915732200 0.00001
NM_206937.2(LIG4):c.447C>T (p.Asn149=) rs766338799 0.00001
NM_206937.2(LIG4):c.474T>C (p.Asn158=) rs1252395998 0.00001
NM_206937.2(LIG4):c.507G>A (p.Lys169=) rs1265921681 0.00001
NM_206937.2(LIG4):c.675T>C (p.Cys225=) rs954157595 0.00001
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr) rs201289944 0.00001
NM_206937.2(LIG4):c.864T>C (p.Tyr288=) rs797045681 0.00001
NM_206937.2(LIG4):c.879A>G (p.Arg293=) rs1332467911 0.00001
NM_206937.2(LIG4):c.*599_*602del rs3093770
NM_206937.2(LIG4):c.1005T>C (p.Tyr335=)
NM_206937.2(LIG4):c.1017A>C (p.Thr339=) rs1191214623
NM_206937.2(LIG4):c.1017A>G (p.Thr339=)
NM_206937.2(LIG4):c.1023T>C (p.Thr341=) rs1594462038
NM_206937.2(LIG4):c.1032A>G (p.Gln344=)
NM_206937.2(LIG4):c.1059A>G (p.Arg353=)
NM_206937.2(LIG4):c.1089T>C (p.Cys363=) rs1566365257
NM_206937.2(LIG4):c.1092T>C (p.Tyr364=)
NM_206937.2(LIG4):c.1095T>C (p.Cys365=)
NM_206937.2(LIG4):c.1107A>T (p.Val369=)
NM_206937.2(LIG4):c.1108T>C (p.Leu370=)
NM_206937.2(LIG4):c.1122T>C (p.Asn374=)
NM_206937.2(LIG4):c.1128G>A (p.Lys376=)
NM_206937.2(LIG4):c.1134G>A (p.Gly378=)
NM_206937.2(LIG4):c.1146G>A (p.Leu382=) rs1878467886
NM_206937.2(LIG4):c.1153A>C (p.Arg385=)
NM_206937.2(LIG4):c.1191A>G (p.Pro397=)
NM_206937.2(LIG4):c.1209G>T (p.Val403=)
NM_206937.2(LIG4):c.1215A>G (p.Lys405=)
NM_206937.2(LIG4):c.1218A>G (p.Thr406=)
NM_206937.2(LIG4):c.1224T>C (p.Ala408=)
NM_206937.2(LIG4):c.1245T>A (p.Ile415=)
NM_206937.2(LIG4):c.1245T>C (p.Ile415=)
NM_206937.2(LIG4):c.1260A>G (p.Glu420=)
NM_206937.2(LIG4):c.1263A>G (p.Ala421=) rs1594460576
NM_206937.2(LIG4):c.1269T>C (p.Asp423=)
NM_206937.2(LIG4):c.1303C>T (p.Leu435=)
NM_206937.2(LIG4):c.1305A>G (p.Leu435=)
NM_206937.2(LIG4):c.1311C>A (p.Ile437=)
NM_206937.2(LIG4):c.1314C>T (p.Tyr438=)
NM_206937.2(LIG4):c.1317G>A (p.Lys439=)
NM_206937.2(LIG4):c.1320A>G (p.Pro440=)
NM_206937.2(LIG4):c.1326A>G (p.Lys442=)
NM_206937.2(LIG4):c.1329A>G (p.Arg443=) rs1421197602
NM_206937.2(LIG4):c.1347A>G (p.Lys449=)
NM_206937.2(LIG4):c.1359G>A (p.Glu453=)
NM_206937.2(LIG4):c.1384T>C (p.Leu462=)
NM_206937.2(LIG4):c.1392T>A (p.Ile464=)
NM_206937.2(LIG4):c.1422A>G (p.Gly474=)
NM_206937.2(LIG4):c.1458A>C (p.Ala486=)
NM_206937.2(LIG4):c.1479T>G (p.Pro493=) rs2138973409
NM_206937.2(LIG4):c.1482T>C (p.Gly494=)
NM_206937.2(LIG4):c.1491A>C (p.Pro497=)
NM_206937.2(LIG4):c.1503T>C (p.His501=)
NM_206937.2(LIG4):c.150T>C (p.His50=)
NM_206937.2(LIG4):c.1545G>A (p.Leu515=) rs2138972922
NM_206937.2(LIG4):c.1545G>C (p.Leu515=)
NM_206937.2(LIG4):c.1569C>G (p.Ala523=)
NM_206937.2(LIG4):c.1575T>C (p.Tyr525=)
NM_206937.2(LIG4):c.1589A>G (p.His530Arg)
NM_206937.2(LIG4):c.1605A>G (p.Pro535=)
NM_206937.2(LIG4):c.1611C>T (p.Ser537=)
NM_206937.2(LIG4):c.1623A>G (p.Gly541=)
NM_206937.2(LIG4):c.1653T>C (p.Pro551=)
NM_206937.2(LIG4):c.1656T>C (p.Cys552=) rs543175901
NM_206937.2(LIG4):c.1665C>G (p.Val555=)
NM_206937.2(LIG4):c.1665C>T (p.Val555=)
NM_206937.2(LIG4):c.1689G>A (p.Glu563=)
NM_206937.2(LIG4):c.174A>G (p.Lys58=) rs1192620115
NM_206937.2(LIG4):c.1755A>G (p.Arg585=)
NM_206937.2(LIG4):c.1767G>A (p.Glu589=)
NM_206937.2(LIG4):c.1797A>G (p.Leu599=)
NM_206937.2(LIG4):c.1800A>G (p.Glu600=)
NM_206937.2(LIG4):c.1809G>A (p.Arg603=)
NM_206937.2(LIG4):c.1836T>C (p.Ser612=)
NM_206937.2(LIG4):c.1842C>T (p.His614=)
NM_206937.2(LIG4):c.1857T>G (p.Gly619=)
NM_206937.2(LIG4):c.1869A>G (p.Pro623=)
NM_206937.2(LIG4):c.1893C>T (p.Ala631=) rs267603748
NM_206937.2(LIG4):c.189T>C (p.Ser63=)
NM_206937.2(LIG4):c.1911T>C (p.Val637=)
NM_206937.2(LIG4):c.1920T>C (p.Ile640=)
NM_206937.2(LIG4):c.195T>C (p.Tyr65=)
NM_206937.2(LIG4):c.1992T>C (p.Phe664=)
NM_206937.2(LIG4):c.2028T>C (p.Pro676=)
NM_206937.2(LIG4):c.2031C>T (p.Asp677=)
NM_206937.2(LIG4):c.2040C>T (p.Asn680=)
NM_206937.2(LIG4):c.2049A>C (p.Ala683=)
NM_206937.2(LIG4):c.2067A>T (p.Ile689=)
NM_206937.2(LIG4):c.2091G>A (p.Thr697=)
NM_206937.2(LIG4):c.2118C>T (p.Asn706=)
NM_206937.2(LIG4):c.2157T>C (p.Asp719=) rs2138968929
NM_206937.2(LIG4):c.2163C>G (p.Val721=)
NM_206937.2(LIG4):c.2166G>A (p.Lys722=)
NM_206937.2(LIG4):c.2169T>G (p.Pro723=)
NM_206937.2(LIG4):c.2172A>C (p.Ala724=)
NM_206937.2(LIG4):c.2172A>G (p.Ala724=)
NM_206937.2(LIG4):c.2250C>G (p.Thr750=)
NM_206937.2(LIG4):c.2283T>C (p.Tyr761=)
NM_206937.2(LIG4):c.2292T>C (p.Ser764=) rs2138968175
NM_206937.2(LIG4):c.2295T>C (p.Tyr765=)
NM_206937.2(LIG4):c.2316C>T (p.Asn772=) rs957413601
NM_206937.2(LIG4):c.2319A>G (p.Gln773=) rs1594454898
NM_206937.2(LIG4):c.2320C>T (p.Leu774=)
NM_206937.2(LIG4):c.2334C>T (p.Phe778=)
NM_206937.2(LIG4):c.237A>G (p.Arg79=)
NM_206937.2(LIG4):c.2388T>C (p.Ile796=)
NM_206937.2(LIG4):c.2409T>C (p.Tyr803=)
NM_206937.2(LIG4):c.2412C>T (p.Ser804=)
NM_206937.2(LIG4):c.2427T>A (p.Pro809=)
NM_206937.2(LIG4):c.2430C>T (p.Leu810=)
NM_206937.2(LIG4):c.243C>G (p.Ala81=)
NM_206937.2(LIG4):c.243C>T (p.Ala81=)
NM_206937.2(LIG4):c.2440C>A (p.Arg814=)
NM_206937.2(LIG4):c.2466G>A (p.Ser822=) rs752539259
NM_206937.2(LIG4):c.2466G>T (p.Ser822=)
NM_206937.2(LIG4):c.246T>C (p.Tyr82=)
NM_206937.2(LIG4):c.2485C>T (p.Leu829=)
NM_206937.2(LIG4):c.24A>G (p.Gln8=)
NM_206937.2(LIG4):c.2505G>A (p.Gly835=)
NM_206937.2(LIG4):c.2517T>C (p.Ala839=)
NM_206937.2(LIG4):c.2527T>C (p.Leu843=)
NM_206937.2(LIG4):c.2529G>A (p.Leu843=)
NM_206937.2(LIG4):c.2541T>C (p.Phe847=)
NM_206937.2(LIG4):c.2556A>G (p.Val852=)
NM_206937.2(LIG4):c.2580G>A (p.Val860=)
NM_206937.2(LIG4):c.2595T>A (p.Ile865=)
NM_206937.2(LIG4):c.2610T>C (p.Ser870=)
NM_206937.2(LIG4):c.261T>C (p.Thr87=)
NM_206937.2(LIG4):c.2667A>C (p.Leu889=)
NM_206937.2(LIG4):c.2667A>G (p.Leu889=)
NM_206937.2(LIG4):c.2676T>C (p.Ser892=)
NM_206937.2(LIG4):c.2700G>A (p.Lys900=)
NM_206937.2(LIG4):c.2703T>C (p.Cys901=)
NM_206937.2(LIG4):c.2715A>G (p.Glu905=)
NM_206937.2(LIG4):c.2736A>G (p.Ter912=)
NM_206937.2(LIG4):c.279T>C (p.Tyr93=)
NM_206937.2(LIG4):c.286T>C (p.Leu96=)
NM_206937.2(LIG4):c.288G>A (p.Leu96=)
NM_206937.2(LIG4):c.321C>G (p.Leu107=)
NM_206937.2(LIG4):c.33A>G (p.Ala11=) rs748718655
NM_206937.2(LIG4):c.360A>G (p.Gly120=)
NM_206937.2(LIG4):c.387A>C (p.Ala129=)
NM_206937.2(LIG4):c.399G>A (p.Leu133=)
NM_206937.2(LIG4):c.438G>A (p.Gln146=)
NM_206937.2(LIG4):c.450C>T (p.Asp150=) rs2138979718
NM_206937.2(LIG4):c.459C>T (p.Asp153=)
NM_206937.2(LIG4):c.480T>A (p.Ser160=)
NM_206937.2(LIG4):c.483T>G (p.Ala161=)
NM_206937.2(LIG4):c.489A>C (p.Arg163Ser)
NM_206937.2(LIG4):c.498A>G (p.Leu166=)
NM_206937.2(LIG4):c.510C>T (p.Ser170=)
NM_206937.2(LIG4):c.519A>G (p.Gln173=)
NM_206937.2(LIG4):c.580T>C (p.Leu194=)
NM_206937.2(LIG4):c.585G>A (p.Lys195=)
NM_206937.2(LIG4):c.612T>C (p.Phe204=)
NM_206937.2(LIG4):c.615T>C (p.Ser205=)
NM_206937.2(LIG4):c.654T>A (p.Thr218=)
NM_206937.2(LIG4):c.663G>A (p.Leu221=)
NM_206937.2(LIG4):c.666A>G (p.Glu222=)
NM_206937.2(LIG4):c.672C>T (p.Val224=)
NM_206937.2(LIG4):c.678G>A (p.Arg226=)
NM_206937.2(LIG4):c.684G>A (p.Leu228=)
NM_206937.2(LIG4):c.708T>C (p.Ser236=)
NM_206937.2(LIG4):c.711T>C (p.Asp237=)
NM_206937.2(LIG4):c.717T>C (p.Ser239=)
NM_206937.2(LIG4):c.720C>T (p.Ile240=) rs1418033761
NM_206937.2(LIG4):c.726A>G (p.Leu242=)
NM_206937.2(LIG4):c.735A>C (p.Ala245=) rs2138978216
NM_206937.2(LIG4):c.735A>G (p.Ala245=) rs2138978216
NM_206937.2(LIG4):c.741A>G (p.Lys247=)
NM_206937.2(LIG4):c.748C>T (p.Leu250=)
NM_206937.2(LIG4):c.753T>G (p.Ala251=) rs2138978156
NM_206937.2(LIG4):c.771G>A (p.Glu257=)
NM_206937.2(LIG4):c.804C>T (p.Phe268=) rs2138977802
NM_206937.2(LIG4):c.819G>A (p.Lys273=)
NM_206937.2(LIG4):c.840A>G (p.Gln280=)
NM_206937.2(LIG4):c.861A>G (p.Val287=)
NM_206937.2(LIG4):c.877C>A (p.Arg293=) rs948441067
NM_206937.2(LIG4):c.885A>G (p.Gly295=)
NM_206937.2(LIG4):c.894C>T (p.Tyr298=)
NM_206937.2(LIG4):c.897T>G (p.Thr299=) rs2138977040
NM_206937.2(LIG4):c.906T>C (p.Phe302=)
NM_206937.2(LIG4):c.936C>T (p.Thr312=)
NM_206937.2(LIG4):c.939A>G (p.Pro313=)
NM_206937.2(LIG4):c.93A>G (p.Gly31=)

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