ClinVar Miner

List of variants reported as pathogenic for DNA ligase IV deficiency; Multiple myeloma

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Total variants: 6
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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.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu) rs104894421

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