ClinVar Miner

List of variants reported as pathogenic for immune system disorder by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000061.3(BTK):c.1349+1G>A rs2147428155
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu) rs2147424186
NM_000211.5(ITGB2):c.1657+1G>T rs2146499719
NM_000397.4(CYBB):c.1271G>A (p.Trp424Ter) rs2146818057
NM_000397.4(CYBB):c.190T>C (p.Cys64Arg) rs2146804063
NM_000397.4(CYBB):c.752G>A (p.Trp251Ter) rs2146813725
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter) rs759401797
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_001375808.2(LPIN2):c.1691_1694del (p.Arg564fs) rs771295943
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp) rs368287711
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) rs137854451
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949

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