ClinVar Miner

List of variants reported as likely pathogenic for DNA ligase IV deficiency by Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.847A>G (p.Lys283Glu) rs1594462950

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