ClinVar Miner

List of variants in gene LIG4 reported as uncertain significance 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: 42
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HGVS dbSNP
NM_002312.3(LIG4):c.*104C>G rs2232644
NM_002312.3(LIG4):c.*166G>C rs538355612
NM_002312.3(LIG4):c.*242A>G rs886049946
NM_002312.3(LIG4):c.*26del rs886049948
NM_002312.3(LIG4):c.*285A>G rs748776641
NM_002312.3(LIG4):c.*306A>G rs886049945
NM_002312.3(LIG4):c.*34T>G rs369320737
NM_002312.3(LIG4):c.*352A>C rs886049944
NM_002312.3(LIG4):c.*486A>G rs543340651
NM_002312.3(LIG4):c.*56G>C rs886049947
NM_002312.3(LIG4):c.*614A>C rs3093771
NM_002312.3(LIG4):c.*625_*629delAATTG rs544474901
NM_002312.3(LIG4):c.*738G>A rs567294082
NM_002312.3(LIG4):c.*906T>A rs886049943
NM_002312.3(LIG4):c.-132A>G rs117159741
NM_002312.3(LIG4):c.-196G>A rs1805385
NM_002312.3(LIG4):c.-260G>C rs886049950
NM_002312.3(LIG4):c.-29+15T>G rs183107946
NM_002312.3(LIG4):c.-32C>T rs536441091
NM_002312.3(LIG4):c.1020A>G (p.Gln340=) rs535025599
NM_002312.3(LIG4):c.1198A>C (p.Ile400Leu) rs886049949
NM_002312.3(LIG4):c.1252T>C (p.Leu418=) rs147181971
NM_002312.3(LIG4):c.13C>A (p.Gln5Lys) rs143590752
NM_002312.3(LIG4):c.1568C>G (p.Ala523Gly) rs781102255
NM_002312.3(LIG4):c.1617A>T (p.Leu539Phe) rs3742212
NM_002312.3(LIG4):c.1756G>T (p.Asp586Tyr) rs753492255
NM_002312.3(LIG4):c.180C>T (p.Val60=) rs2232637
NM_002312.3(LIG4):c.1983T>C (p.Asp661=) rs199638675
NM_002312.3(LIG4):c.2222G>A (p.Arg741His) rs143767581
NM_002312.3(LIG4):c.2274T>C (p.Tyr758=) rs529756815
NM_002312.3(LIG4):c.2499T>C (p.Asn833=) rs769297575
NM_002312.3(LIG4):c.2518A>G (p.Ile840Val) rs200369995
NM_002312.3(LIG4):c.2525C>A (p.Ala842Asp) rs72660870
NM_002312.3(LIG4):c.2549C>T (p.Ala850Val) rs188422094
NM_002312.3(LIG4):c.437A>G (p.Gln146Arg) rs754996739
NM_002312.3(LIG4):c.500T>G (p.Ile167Arg) rs138021217
NM_002312.3(LIG4):c.513T>C (p.Leu171=) rs3093764
NM_002312.3(LIG4):c.560T>C (p.Ile187Thr) rs199854013
NM_002312.3(LIG4):c.563G>A (p.Arg188Gln) rs748385144
NM_002312.3(LIG4):c.607A>G (p.Ile203Val) rs778278351
NM_002312.3(LIG4):c.915T>C (p.Ser305=) rs2232639
NM_206937.2(LIG4):c.-101-181T>C rs1009787521

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