ClinVar Miner

List of variants reported as pathogenic for autoimmune disease by OMIM

Included ClinVar conditions (87):
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ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_001098629.3(IRF5):c.-12+198= rs1432329681 0.47453
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe) rs17860403 0.00020
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) rs869025224 0.00001
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) rs199840952 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001378687.1(ATP2C1):c.2126+1G>A rs748204512 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) rs606231297 0.00001
FOXP3, 543C-T
NC_000001.11:g.206775286T>C rs587776843
NM_000043.6(FAS):c.232del (p.Asp78fs) rs606231361
NM_000043.6(FAS):c.334+2dup rs606231362
NM_000043.6(FAS):c.361C>T (p.Arg121Trp) rs121913078
NM_000043.6(FAS):c.569-2A>C rs606231363
NM_000043.6(FAS):c.651+2T>A rs267607122
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000043.6(FAS):c.692_693insT (p.Lys231fs) rs606231366
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.721A>C (p.Thr241Pro) rs121913076
NM_000043.6(FAS):c.73G>A (p.Ala25Thr) rs606231364
NM_000043.6(FAS):c.740G>C (p.Gly247Ala) rs121913085
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) rs121913086
NM_000043.6(FAS):c.779A>T (p.Asp260Val) rs28929498
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000043.6(FAS):c.817C>T (p.Gln273Ter) rs121913077
NM_000043.6(FAS):c.968_987dup (p.Glu330fs) rs606231365
NM_000138.5(FBN1):c.5134_5137dup (p.Asn1713fs) rs1131692049
NM_000383.3:c.995+(3_5)delGAGinsTAT
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.239T>G (p.Val80Gly) rs267606642
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) rs80358236
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) rs104895476
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) rs104895477
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) rs104895460
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) rs104895472
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter) rs137853013
NM_001378687.1(ATP2C1):c.1469G>T (p.Cys490Phe) rs137853014
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro) rs137853015
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs) rs1057517706
NM_001378687.1(ATP2C1):c.2460del (p.Met820fs) rs1560033613
NM_001378687.1(ATP2C1):c.769_772dup (p.Leu258fs) rs1559971447
NM_001378687.1(ATP2C1):c.900-1G>A rs1559982055
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr) rs137853012
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_004944.4(DNASE1L3):c.643del (p.Trp215fs) rs1575496354
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter) rs606231420
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.567+5G>C rs606231419
NM_005214.5(CTLA4):c.75del (p.Leu28fs) rs606231418
NM_006254.4(PRKCD):c.1352+1G>A rs398122958
NM_006254.4(PRKCD):c.1384C>T (p.Gln462Ter) rs1553669486
NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser) rs606231296
NM_006254.4(PRKCD):c.571+2dup rs2107263484
NM_006254.4(PRKCD):c.642del (p.Asn214fs) rs2107267894
NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp) rs796065052
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1165G>C (p.Val389Leu) rs1574648928
NM_007315.4(STAT1):c.1398C>G (p.Ser466Arg)
NM_007315.4(STAT1):c.493G>C (p.Asp165His) rs387906767
NM_007315.4(STAT1):c.494A>G (p.Asp165Gly) rs387906764
NM_007315.4(STAT1):c.508T>A (p.Tyr170Asn) rs387906766
NM_007315.4(STAT1):c.520T>C (p.Cys174Arg) rs387906763
NM_007315.4(STAT1):c.537C>A (p.Asn179Lys) rs587777628
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.606G>A (p.Met202Ile) rs1559019204
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.812A>C (p.Gln271Pro) rs387906768
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.832A>G (p.Lys278Glu) rs863223398
NM_007315.4(STAT1):c.854A>G (p.Gln285Arg) rs587777629
NM_007315.4(STAT1):c.857A>T (p.Lys286Ile) rs387906761
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) rs122467175
NM_014009.4(FOXP3):c.1112T>G (p.Phe371Cys) rs122467169
NM_014009.4(FOXP3):c.1117_1118delinsGC (p.Phe373Ala) rs122467172
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) rs122467170
NM_014009.4(FOXP3):c.1290_*12delinsTG (p.Pro431fs) rs2147944039
NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?) rs1602679037
NM_014009.4(FOXP3):c.227del (p.Leu76fs) rs2147949186
NM_014009.4(FOXP3):c.3G>A (p.Met1Ile) rs122467174
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171
NM_014009.4(FOXP3):c.967+4A>G rs1426535368
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu) rs2147245859
NM_016562.4(TLR7):c.790T>C (p.Tyr264His) rs2147245558
NM_016562.4(TLR7):c.82A>G (p.Arg28Gly) rs2147245261
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_139276.3(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.3(STAT3):c.1175A>G (p.Lys392Arg) rs587777648
NM_139276.3(STAT3):c.1938C>G (p.Asn646Lys) rs587777649
NM_139276.3(STAT3):c.1974G>C (p.Lys658Asn) rs587777650
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_170662.5(CBLB):c.1308C>G (p.Cys436Trp)
NM_170662.5(CBLB):c.1402C>T (p.Arg468Ter)
NM_170662.5(CBLB):c.770A>T (p.His257Leu)

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