ClinVar Miner

List of variants in gene LIG4 reported as pathogenic for Inborn genetic diseases

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Total variants: 3
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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.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476

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