ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (908):
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ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_139276.3(STAT3):c.1233+19C>T rs764434579 0.00010
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) rs144754091 0.00004
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) rs757850683 0.00004
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494 0.00004
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg) rs776060270 0.00002
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) rs1554835099 0.00001
NM_000628.5(IL10RB):c.647-14A>C rs45526732 0.00001
NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His) rs782349780 0.00001
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu) rs200907515 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe) rs1375911072 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu) rs574370336 0.00001
NM_203447.4(DOCK8):c.4241+19T>G rs2056303175 0.00001
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
NM_000081.4(LYST):c.11038+11T>C
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.305A>G (p.Gln102Arg) rs1697938546
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001291303.3(FAT4):c.14404C>T (p.Pro4802Ser) rs1727627190
NM_001291303.3(FAT4):c.5944A>G (p.Ser1982Gly) rs746510253
NM_001367916.1(MAGT1):c.431C>T (p.Ala144Val) rs2076984239
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) rs1556619324
NM_002296.4(LBR):c.166-12C>T
NM_004523.4(KIF11):c.1217+14_1217+283del rs1844616530
NM_005026.5(PIK3CD):c.371-18G>C rs1647322437
NM_006206.6(PDGFRA):c.2221C>T (p.Gln741Ter) rs1724006429
NM_007315.4(STAT1):c.1280C>A (p.Thr427Asn) rs1692621311
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs) rs1961069899
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) rs1057518847
NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg) rs2049559202
NM_173483.4(CYP4F22):c.1211T>C (p.Leu404Pro) rs1555730246
NM_173483.4(CYP4F22):c.1544G>T (p.Arg515Leu) rs1425964436
NM_181523.3(PIK3R1):c.769A>C (p.Asn257His) rs1746797117
NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) rs1762428823
NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) rs1189576922
NM_203447.4(DOCK8):c.2308G>C (p.Glu770Gln) rs2053549124
NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn) rs2055912945

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