ClinVar Miner

List of variants in gene LIG4 reported as uncertain significance for Severe combined immunodeficiency due to DCLRE1C deficiency

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Total variants: 52
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HGVS dbSNP
NM_002312.3(LIG4):c.*166G>C rs538355612
NM_002312.3(LIG4):c.*242A>G rs886049946
NM_002312.3(LIG4):c.*26C>G
NM_002312.3(LIG4):c.*26del rs886049948
NM_002312.3(LIG4):c.*285A>G rs748776641
NM_002312.3(LIG4):c.*291A>G
NM_002312.3(LIG4):c.*306A>G rs886049945
NM_002312.3(LIG4):c.*352A>C rs886049944
NM_002312.3(LIG4):c.*486A>G rs543340651
NM_002312.3(LIG4):c.*525T>G
NM_002312.3(LIG4):c.*56G>C rs886049947
NM_002312.3(LIG4):c.*736C>G
NM_002312.3(LIG4):c.*738G>A rs567294082
NM_002312.3(LIG4):c.*781A>G
NM_002312.3(LIG4):c.*857T>C
NM_002312.3(LIG4):c.*906T>A rs886049943
NM_002312.3(LIG4):c.-260G>C rs886049950
NM_002312.3(LIG4):c.-32C>T rs536441091
NM_206937.2(LIG4):c.*620_*624AATTG[1] rs544474901
NM_206937.2(LIG4):c.-101-181T>C rs1009787521
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) rs535025599
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe) rs144322912
NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu) rs886049949
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser)
NM_206937.2(LIG4):c.1239A>G (p.Glu413=)
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) rs147181971
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752
NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly) rs781102255
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe) rs3742212
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=)
NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr) rs753492255
NM_206937.2(LIG4):c.1830C>T (p.Leu610=)
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095
NM_206937.2(LIG4):c.1971T>C (p.Asn657=)
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) rs199638675
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) rs529756815
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala) rs137899041
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg)
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) rs769297575
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val) rs188422094
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196
NM_206937.2(LIG4):c.437A>G (p.Gln146Arg) rs754996739
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) rs138021217
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) rs748385144
NM_206937.2(LIG4):c.607A>G (p.Ile203Val) rs778278351
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr)
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr)

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