ClinVar Miner

List of variants in gene LIG4 reported as likely benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_002312.3(LIG4):c.*34T>G rs369320737
NM_002312.3(LIG4):c.*562_*563insAAT rs112171260
NM_002312.3(LIG4):c.*599_*602del rs3093770
NM_002312.3(LIG4):c.*614A>C rs3093771
NM_002312.3(LIG4):c.*855_*856insTTTT rs146506306
NM_002312.3(LIG4):c.-132A>G rs117159741
NM_002312.3(LIG4):c.-29+15T>G rs183107946
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val) rs200369995

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