ClinVar Miner

List of variants studied for T-B- severe combined immunodeficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.4(ADA):c.*152C>T rs560858565
NM_000022.4(ADA):c.*173G>C rs11906526
NM_000022.4(ADA):c.*174T>A rs886056706
NM_000022.4(ADA):c.*282C>T rs188755077
NM_000022.4(ADA):c.-10C>G rs886056709
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.594C>T (p.Val198=) rs886056708
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.679-8C>T rs886056707
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_001322050.1(ADA):c.-390G>A rs36216718
NM_002312.3(LIG4):c.*1035G>A rs10131
NM_002312.3(LIG4):c.*104C>G rs2232644
NM_002312.3(LIG4):c.*1081C>T rs113388531
NM_002312.3(LIG4):c.*129A>G rs3093767
NM_002312.3(LIG4):c.*131A>T rs3093768
NM_002312.3(LIG4):c.*166G>C rs538355612
NM_002312.3(LIG4):c.*204A>G rs3093769
NM_002312.3(LIG4):c.*242A>G rs886049946
NM_002312.3(LIG4):c.*26delC 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.*54G>A rs2232643
NM_002312.3(LIG4):c.*562_*563insAAT rs112171260
NM_002312.3(LIG4):c.*56G>C rs886049947
NM_002312.3(LIG4):c.*599_*602delCTTA rs3093770
NM_002312.3(LIG4):c.*614A>C rs3093771
NM_002312.3(LIG4):c.*625_*629delAATTG rs544474901
NM_002312.3(LIG4):c.*677A>G rs3093772
NM_002312.3(LIG4):c.*738G>A rs567294082
NM_002312.3(LIG4):c.*826A>T rs116018061
NM_002312.3(LIG4):c.*855_*856insTTTT rs146506306
NM_002312.3(LIG4):c.*906T>A rs886049943
NM_002312.3(LIG4):c.*983G>A rs75642465
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.-273C>T rs1805387
NM_002312.3(LIG4):c.-29+15T>G rs183107946
NM_002312.3(LIG4):c.-32C>T rs536441091
NM_002312.3(LIG4):c.-7C>T rs4987182
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.1704T>C (p.Asp568=) rs1805386
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.2569G>A (p.Ala857Thr) rs2232642
NM_002312.3(LIG4):c.26C>T (p.Thr9Ile) rs1805388
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.807C>T (p.Tyr269=) rs2232638
NM_002312.3(LIG4):c.8C>T (p.Ala3Val) rs1805389
NM_002312.3(LIG4):c.915T>C (p.Ser305=) rs2232639
NM_206937.2(LIG4):c.-101-181T>C rs1009787521

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