ClinVar Miner

List of variants reported as likely pathogenic for Lig4 syndrome

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Total variants: 4
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NM_002312.3(LIG4):c.1312T>C (p.Tyr438His) rs886037777
NM_002312.3(LIG4):c.2321T>C (p.Leu774Pro) rs1060499662
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002312.3(LIG4):c.879_883del (p.Asn294fs) rs751070095

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