ClinVar Miner

List of variants studied for severe combined immunodeficiency due to DCLRE1C deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_206937.2(LIG4):c.*1035G>A rs10131 0.11700
NM_206937.2(LIG4):c.*677A>G rs3093772 0.09986
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_206937.2(LIG4):c.*1081C>T rs113388531 0.03279
NM_206937.2(LIG4):c.*826A>T rs116018061 0.03278
NM_206937.2(LIG4):c.*685T>C rs116798101 0.03277
NM_206937.2(LIG4):c.*983G>A rs75642465 0.03277
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638 0.03276
NM_206937.2(LIG4):c.*204A>G rs3093769 0.03275
NM_206937.2(LIG4):c.*131A>T rs3093768 0.03272
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03272
NM_206937.2(LIG4):c.*562_*563insAAT rs112171260 0.03265
NM_206937.2(LIG4):c.*855_*856insTTTT rs146506306 0.03264
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_206937.2(LIG4):c.-101-172C>T rs1805387 0.02719
NM_206937.2(LIG4):c.*129A>G rs3093767 0.02174
NM_206937.2(LIG4):c.*54G>A rs2232643 0.01584
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_206937.2(LIG4):c.*104C>G rs2232644 0.00690
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_206937.2(LIG4):c.-101-95G>A rs1805385 0.00533
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639 0.00524
NM_206937.2(LIG4):c.*614A>C rs3093771 0.00359
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_206937.2(LIG4):c.-29+15T>G rs183107946 0.00310
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_206937.2(LIG4):c.*736C>G rs201529988 0.00110
NM_206937.2(LIG4):c.*34T>G rs369320737 0.00087
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196 0.00069
NM_206937.2(LIG4):c.*166G>C rs538355612 0.00056
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641 0.00051
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752 0.00044
NM_206937.2(LIG4):c.*486A>G rs543340651 0.00043
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581 0.00043
NM_206937.2(LIG4):c.*525T>G rs563066834 0.00039
NM_206937.2(LIG4):c.-32C>T rs536441091 0.00039
NM_206937.2(LIG4):c.-101-159G>C rs886049950 0.00036
NM_206937.2(LIG4):c.2016C>G (p.Ser672Arg) rs142144659 0.00036
NM_206937.2(LIG4):c.*738G>A rs567294082 0.00034
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) rs199638675 0.00032
NM_206937.2(LIG4):c.2518A>G (p.Ile840Val) rs200369995 0.00014
NM_206937.2(LIG4):c.1705A>G (p.Met569Val) rs774699419 0.00011
NM_206937.2(LIG4):c.*285A>G rs748776641 0.00010
NM_206937.2(LIG4):c.-101-31A>G rs117159741 0.00010
NM_206937.2(LIG4):c.-101-181T>C rs1009787521 0.00008
NM_206937.2(LIG4):c.2425C>G (p.Pro809Ala) rs137899041 0.00008
NM_206937.2(LIG4):c.2549C>T (p.Ala850Val) rs188422094 0.00007
NM_206937.2(LIG4):c.1830C>T (p.Leu610=) rs768563098 0.00006
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) rs138021217 0.00006
NM_206937.2(LIG4):c.*242A>G rs886049946 0.00005
NM_206937.2(LIG4):c.*306A>G rs886049945 0.00005
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp) rs755708095 0.00005
NM_206937.2(LIG4):c.*781A>G rs944422798 0.00004
NM_206937.2(LIG4):c.607A>G (p.Ile203Val) rs778278351 0.00004
NM_206937.2(LIG4):c.968T>C (p.Ile323Thr) rs376108062 0.00004
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) rs529756815 0.00003
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) rs769297575 0.00003
NM_206937.2(LIG4):c.*291A>G rs1033897436 0.00002
NM_206937.2(LIG4):c.*352A>C rs886049944 0.00002
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) rs147181971 0.00002
NM_206937.2(LIG4):c.1971T>C (p.Asn657=) rs764483419 0.00002
NM_206937.2(LIG4):c.2435T>G (p.Met812Arg) rs748716395 0.00002
NM_206937.2(LIG4):c.437A>G (p.Gln146Arg) rs754996739 0.00002
NM_206937.2(LIG4):c.563G>A (p.Arg188Gln) rs748385144 0.00002
NM_206937.2(LIG4):c.*56G>C rs886049947 0.00001
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) rs535025599 0.00001
NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe) rs144322912 0.00001
NM_206937.2(LIG4):c.1239A>G (p.Glu413=) rs1342090676 0.00001
NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe) rs3742212 0.00001
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=) rs763222026 0.00001
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr) rs199854013 0.00001
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr) rs201289944 0.00001
NM_206937.2(LIG4):c.*26C>G rs773391515
NM_206937.2(LIG4):c.*26del rs886049948
NM_206937.2(LIG4):c.*599_*602del rs3093770
NM_206937.2(LIG4):c.*620AATTG[1] rs544474901
NM_206937.2(LIG4):c.*857T>C rs536555099
NM_206937.2(LIG4):c.*906T>A rs886049943
NM_206937.2(LIG4):c.1198A>C (p.Ile400Leu) rs886049949
NM_206937.2(LIG4):c.1235A>G (p.Asn412Ser) rs781425152
NM_206937.2(LIG4):c.1568C>G (p.Ala523Gly) rs781102255
NM_206937.2(LIG4):c.1756G>T (p.Asp586Tyr) rs753492255

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