ClinVar Miner

List of variants reported as pathogenic for DNA ligase IV deficiency

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_206937.2(LIG4):c.2690C>G (p.Ser897Ter) rs750080610 0.00004
NM_206937.2(LIG4):c.73C>T (p.Arg25Ter) rs753883369 0.00002
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) rs104894418 0.00001
NM_206937.2(LIG4):c.833G>A (p.Arg278His) rs104894421 0.00001
NM_206937.2(LIG4):c.845A>T (p.His282Leu) rs777008519 0.00001
NC_000013.10:g.(?_108860881)_(108863616_?)del
NC_000013.11:g.(?_108208513)_(108211288_?)del
NM_206937.2(LIG4):c.1026del (p.Phe342fs)
NM_206937.2(LIG4):c.1037_1044del (p.Gly346fs)
NM_206937.2(LIG4):c.106dup (p.Ile36fs)
NM_206937.2(LIG4):c.1144_1145del (p.Leu382fs) rs1246940345
NM_206937.2(LIG4):c.1150_1153del (p.Lys384fs)
NM_206937.2(LIG4):c.1210del (p.Gln404fs)
NM_206937.2(LIG4):c.1243_1244del (p.Val414_Ile415insTer)
NM_206937.2(LIG4):c.1246_1250dup (p.Leu418fs) rs2138974907
NM_206937.2(LIG4):c.1270_1273del (p.Lys424fs)
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1289dup (p.Met430fs)
NM_206937.2(LIG4):c.1295AAC[1] (p.Gln433del) rs587776663
NM_206937.2(LIG4):c.1383del (p.Glu461fs)
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu) rs104894420
NM_206937.2(LIG4):c.1430del (p.Gly477fs)
NM_206937.2(LIG4):c.1475del (p.Pro492fs) rs767195999
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1536_1537delinsTT (p.Met512_Lys513delinsIleTer)
NM_206937.2(LIG4):c.1561A>T (p.Lys521Ter)
NM_206937.2(LIG4):c.1578G>A (p.Trp526Ter)
NM_206937.2(LIG4):c.1583del (p.Pro528fs)
NM_206937.2(LIG4):c.1621G>T (p.Gly541Ter)
NM_206937.2(LIG4):c.1636G>T (p.Glu546Ter)
NM_206937.2(LIG4):c.1642_1643del (p.Tyr548fs) rs1594458526
NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs) rs759829934
NM_206937.2(LIG4):c.1748del (p.Lys583fs)
NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs) rs770128720
NM_206937.2(LIG4):c.1762_1764del (p.Lys588del)
NM_206937.2(LIG4):c.1798G>T (p.Glu600Ter)
NM_206937.2(LIG4):c.1870C>T (p.Gln624Ter)
NM_206937.2(LIG4):c.1880dup (p.Arg628fs)
NM_206937.2(LIG4):c.188_189del (p.Ser63fs)
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.1928del (p.His643fs)
NM_206937.2(LIG4):c.1973del (p.Ile658fs)
NM_206937.2(LIG4):c.2019_2022del (p.Pro674fs)
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) rs373938258
NM_206937.2(LIG4):c.2135_2136del (p.Ile712fs) rs1566360837
NM_206937.2(LIG4):c.2175del (p.Trp725fs) rs1286797317
NM_206937.2(LIG4):c.2190del (p.Phe730fs)
NM_206937.2(LIG4):c.2200del (p.Ser734fs)
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
NM_206937.2(LIG4):c.2262del (p.Phe754fs)
NM_206937.2(LIG4):c.2269G>T (p.Glu757Ter)
NM_206937.2(LIG4):c.226G>T (p.Glu76Ter)
NM_206937.2(LIG4):c.22C>T (p.Gln8Ter)
NM_206937.2(LIG4):c.2305dup (p.Thr769fs) rs1878251067
NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)
NM_206937.2(LIG4):c.2317C>T (p.Gln773Ter)
NM_206937.2(LIG4):c.2326del (p.Glu776fs)
NM_206937.2(LIG4):c.2359C>T (p.Gln787Ter)
NM_206937.2(LIG4):c.2426_2430del (p.Pro809fs)
NM_206937.2(LIG4):c.2427dup (p.Leu810fs)
NM_206937.2(LIG4):c.250dup (p.Ile84fs)
NM_206937.2(LIG4):c.2585_2586del (p.His862fs)
NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs) rs765317127
NM_206937.2(LIG4):c.2595del (p.Ile865fs) rs757090161
NM_206937.2(LIG4):c.2645_2646del (p.Thr881_Phe882insTer)
NM_206937.2(LIG4):c.2653_2654dup (p.Phe886fs)
NM_206937.2(LIG4):c.2690C>A (p.Ser897Ter)
NM_206937.2(LIG4):c.374_375del (p.Phe125fs)
NM_206937.2(LIG4):c.439del (p.Gln147fs)
NM_206937.2(LIG4):c.482del (p.Ala161fs)
NM_206937.2(LIG4):c.536C>G (p.Ser179Ter)
NM_206937.2(LIG4):c.575del (p.Lys192fs)
NM_206937.2(LIG4):c.597_600del (p.Gln200fs) rs752339466
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206937.2(LIG4):c.678del (p.Arg226fs)
NM_206937.2(LIG4):c.724_725del (p.Leu242fs) rs2138978299
NM_206937.2(LIG4):c.757_758del (p.Ile253fs)
NM_206937.2(LIG4):c.799_800del (p.Ser267fs) rs1566366148
NM_206937.2(LIG4):c.806del (p.Tyr269fs)
NM_206937.2(LIG4):c.807del (p.Phe268_Tyr269insTer)
NM_206937.2(LIG4):c.832C>G (p.Arg278Gly) rs574912936
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)
NM_206937.2(LIG4):c.839A>G (p.Gln280Arg)
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095
NM_206937.2(LIG4):c.906del (p.Phe302fs)

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