ClinVar Miner

List of variants reported as likely benign 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: 23
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NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.4(ADA):c.*173G>C rs11906526
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144
NM_001322050.1(ADA):c.-390G>A rs36216718
NM_002312.3(LIG4):c.*1035G>A rs10131
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.*204A>G rs3093769
NM_002312.3(LIG4):c.*54G>A rs2232643
NM_002312.3(LIG4):c.*562_*563insAAT rs112171260
NM_002312.3(LIG4):c.*599_*602delCTTA rs3093770
NM_002312.3(LIG4):c.*677A>G rs3093772
NM_002312.3(LIG4):c.*826A>T rs116018061
NM_002312.3(LIG4):c.*855_*856insTTTT rs146506306
NM_002312.3(LIG4):c.*983G>A rs75642465
NM_002312.3(LIG4):c.-273C>T rs1805387
NM_002312.3(LIG4):c.-7C>T rs4987182
NM_002312.3(LIG4):c.1704T>C (p.Asp568=) rs1805386
NM_002312.3(LIG4):c.2569G>A (p.Ala857Thr) rs2232642
NM_002312.3(LIG4):c.807C>T (p.Tyr269=) rs2232638
NM_002312.3(LIG4):c.8C>T (p.Ala3Val) rs1805389

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