ClinVar Miner

List of variants reported as pathogenic for autoimmune disease by OMIM

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
Download table as spreadsheet
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
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.682G>T (p.Gly228Trp) rs121434257
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_153758.5(IL19):c.-149+4208T>C rs587776843
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.