ClinVar Miner

List of variants studied for immune system disorder by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (908):
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ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met) rs144600070 0.00471
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407 0.00296
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663 0.00253
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe) rs142818579 0.00099
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000433.4(NCF2):c.1179-4C>G rs55795842 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala) rs376205580 0.00033
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_144687.4(NLRP12):c.629C>T (p.Pro210Leu) rs377594629 0.00021
NM_007259.5(VPS45):c.1701G>A (p.Ala567=) rs377365764 0.00016
NM_003978.5(PSTPIP1):c.355-16C>G rs767272289 0.00015
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_002661.5(PLCG2):c.2055-7G>A rs373933998 0.00014
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu) rs141807543 0.00013
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) rs141730361 0.00009
NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu) rs778792433 0.00008
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) rs373779625 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_032444.4(SLX4):c.4739+7G>A rs748897456 0.00002
NM_144687.4(NLRP12):c.1754C>T (p.Pro585Leu) rs569411184 0.00002
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001113378.2(FANCI):c.3400A>G (p.Ile1134Val) rs377630829 0.00001
NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) rs200136227 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr) rs1569154492 0.00001
NM_024675.4(PALB2):c.3350+11A>G rs515726114 0.00001
NM_199242.3(UNC13D):c.1556T>C (p.Ile519Thr) rs1402195363 0.00001
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro) rs55877890
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000065.5(C6):c.2101C>T (p.Arg701Trp) rs199930769
NM_000138.5(FBN1):c.1415dup (p.Tyr472Ter)
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) rs33972593
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_001065.4(TNFRSF1A):c.236C>T (p.Thr79Met) rs104895219
NM_001083116.3(PRF1):c.1284G>A (p.Trp428Ter)
NM_001113378.2(FANCI):c.3355G>T (p.Ala1119Ser)
NM_001142864.4(PIEZO1):c.1297-1G>A rs1905219617
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001364905.1(LRBA):c.7088T>A (p.Phe2363Tyr)
NM_001366385.1(CARD14):c.613T>A (p.Tyr205Asn) rs182551076
NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)
NM_004364.5(CEBPA):c.209del (p.Pro70fs) rs2145263762
NM_004364.5(CEBPA):c.928_945dup (p.Leu315_Glu316insThrGlnGlnLysValLeu) rs2145258824
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.2764A>G (p.Ile922Val) rs780420674
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006947.4(SRP72):c.-10C>T
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_032492.4(JAGN1):c.*9T>C rs11554811
NM_032638.5(GATA2):c.1322_1325dup (p.His442fs) rs2107667819
NM_139027.6(ADAMTS13):c.2293C>T (p.Arg765Trp)
NM_144687.4(NLRP12):c.2056_2057dup (p.Leu687fs)
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_172351.3(CD46):c.191G>T (p.Cys64Phe) rs1655633353
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)

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