ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys) rs1573087364 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_000043.6(FAS):c.693dup (p.Tyr232fs)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000377.3(WAS):c.1052del (p.Pro351fs) rs2147266405
NM_000448.3(RAG1):c.1348C>T (p.Gln450Ter) rs1850809690
NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter) rs1850845029
NM_001013838.3(CARMIL2):c.958+1G>C rs1567628294
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001111.5(ADAR):c.3364A>C (p.Lys1122Gln)
NM_001167.4(XIAP):c.542C>T (p.Pro181Leu)
NM_001289125.3(IFNAR2):c.158_160del (p.Ser53del)
NM_001322934.2(NFKB2):c.104-1G>C rs2061116343
NM_001805.4(CEBPE):c.653T>C (p.Val218Ala) rs747524697
NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)
NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) rs2061880735
NM_003721.4(RFXANK):c.460del (p.Ala154fs) rs2060634316
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del
NM_004523.4(KIF11):c.301_302del (p.Ile101fs)
NM_004523.4(KIF11):c.574-2A>G
NM_004523.4(KIF11):c.789+1G>T rs2135904919
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) rs2153477847
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_013314.4(BLNK):c.746+1G>A rs2083906060
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) rs748914604
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.2828del (p.Ala943fs) rs1554765140
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941

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