ClinVar Miner

List of variants reported as benign for autoimmune disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 218
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_001372051.1(CASP8):c.*122G>C rs3185378 0.55328
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_001370466.1(NOD2):c.*397A>C rs3135499 0.45667
NM_001370466.1(NOD2):c.*1156G>A rs3135500 0.44678
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_001370466.1(NOD2):c.453C>G (p.Ser151=) rs2067085 0.35090
NM_001372051.1(CASP8):c.*845T>A rs13113 0.33069
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=) rs1861759 0.32445
NM_001370466.1(NOD2):c.-8-2303G>A rs2076752 0.21018
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser) rs2066842 0.17968
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=) rs2066843 0.17266
NM_000043.6(FAS):c.*1084C>T rs1468063 0.16498
NM_001372051.1(CASP8):c.*83G>A rs17860428 0.13714
NM_001372051.1(CASP8):c.*175C>T rs2141331 0.12768
NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=) rs16835513 0.12740
NM_032977.3(CASP10):c.-206C>T rs16836789 0.12450
NM_032977.4(CASP10):c.*285G>A rs3851974 0.11086
NM_032977.4(CASP10):c.*277G>A rs3931696 0.11064
NM_001372051.1(CASP8):c.*464T>C rs1045494 0.09887
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) rs1045487 0.09873
NM_000043.6(FAS):c.*565A>T rs1051070 0.07031
NM_032977.4(CASP10):c.923-3C>T rs6753900 0.06908
NM_032977.4(CASP10):c.*1920G>C rs11885191 0.06626
NM_032977.3(CASP10):c.-360T>C rs41429849 0.06590
NM_032977.4(CASP10):c.*2757A>G rs13414860 0.06432
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001372051.1(CASP8):c.*99G>A rs13425383 0.05700
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_001378687.1(ATP2C1):c.6+15C>G rs112703671 0.05056
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.03925
NM_000043.6(FAS):c.*765T>C rs9658776 0.03922
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_001372051.1(CASP8):c.*429A>G rs17860433 0.03449
NM_032977.4(CASP10):c.*815C>T rs17860409 0.03348
NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=) rs6810181 0.03154
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_001372051.1(CASP8):c.*411G>C rs17860432 0.02398
NM_000043.6(FAS):c.*142A>G rs9658774 0.02166
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02156
NM_001370466.1(NOD2):c.2381+10A>C rs72796353 0.01447
NM_032977.4(CASP10):c.*367G>C rs41365346 0.01382
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly) rs5743278 0.01319
NM_001370466.1(NOD2):c.*521C>T rs5743297 0.01203
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01112
NM_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.01025
NM_001372051.1(CASP8):c.*60C>T rs13425113 0.00993
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_001370466.1(NOD2):c.460-3T>C rs141833420 0.00836
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00771
NM_032977.4(CASP10):c.*3513A>G rs6752492 0.00762
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr) rs34684955 0.00726
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His) rs35285618 0.00681
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_032977.4(CASP10):c.*2689A>G rs41447745 0.00601
NM_001228.5(CASP8):c.-143T>G rs34609836 0.00568
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_032977.4(CASP10):c.*2831C>T rs151162733 0.00535
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_032977.4(CASP10):c.*2289A>C rs41369551 0.00488
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_032977.4(CASP10):c.*1471G>A rs192319559 0.00466
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_032977.4(CASP10):c.*665G>A rs142072849 0.00456
NM_032977.4(CASP10):c.*77T>G rs191438878 0.00455
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_032977.4(CASP10):c.*3137G>C rs41522046 0.00417
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_001370466.1(NOD2):c.2466-11G>T rs5743285 0.00402
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_032977.4(CASP10):c.*2618G>A rs41431151 0.00382
NM_001378687.1(ATP2C1):c.1683C>T (p.Ala561=) rs114319700 0.00372
NM_000639.3(FASLG):c.*606T>A rs74124375 0.00364
NM_001378687.1(ATP2C1):c.117+7G>A rs41266501 0.00334
NM_032977.4(CASP10):c.*1043C>T rs553212718 0.00334
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_032977.4(CASP10):c.*1593T>C rs564618271 0.00307
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_032977.4(CASP10):c.*1793C>A rs114760847 0.00258
NM_001370466.1(NOD2):c.*873C>T rs373812846 0.00255
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_032977.4(CASP10):c.*1955G>A rs139807893 0.00249
NM_032977.4(CASP10):c.*3071G>A rs41339144 0.00247
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_001378687.1(ATP2C1):c.*1545A>G rs372789446 0.00237
NM_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00231
NM_001370466.1(NOD2):c.*620G>A rs116213743 0.00230
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_032977.4(CASP10):c.534A>C (p.Val178=) rs146233833 0.00226
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_001370466.1(NOD2):c.*990T>C rs192842874 0.00208
NM_015474.3(SAMHD1):c.-166G>T rs546207604 0.00197
NM_032977.4(CASP10):c.*1688A>G rs41515650 0.00191
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_001370466.1(NOD2):c.*89C>T rs184545855 0.00183
NM_001370466.1(NOD2):c.-8-2302T>C rs139485985 0.00167
NM_000639.3(FASLG):c.*817A>G rs45442301 0.00162
NM_001370466.1(NOD2):c.2325G>T (p.Val775=) rs104895495 0.00157
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) rs104895425 0.00152
NM_000639.3(FASLG):c.*406G>T rs138658215 0.00150
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464 0.00137
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00135
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444 0.00127
NM_000043.6(FAS):c.*638T>C rs192032778 0.00117
NM_014382.4(ATP2C1):c.*1839A>G rs141516276 0.00108
NM_001378687.1(ATP2C1):c.1840-12G>A rs201666095 0.00106
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) rs104895431 0.00103
NM_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_000043.6(FAS):c.*1333G>T rs9658779 0.00071
NM_032977.4(CASP10):c.*1914C>T rs185318287 0.00070
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) rs146054564 0.00068
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_000043.6(FAS):c.*1203G>A rs190060976 0.00062
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys) rs1078327 0.00057
NM_032977.4(CASP10):c.347+8C>T rs140246829 0.00056
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His) rs104895483 0.00055
NM_000639.3(FASLG):c.108G>A (p.Val36=) rs140595317 0.00054
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) rs35142591 0.00051
NM_000639.3(FASLG):c.*754G>A rs55779656 0.00049
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) rs187264529 0.00048
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) rs147874812 0.00046
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_000639.3(FASLG):c.395-15C>G rs370579312 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) rs104895432 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_001370466.1(NOD2):c.*877C>A rs140643942 0.00031
NM_000639.3(FASLG):c.*725A>G rs542205727 0.00030
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) rs756943416 0.00027
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) rs5743275 0.00024
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) rs104895469 0.00024
NM_032977.4(CASP10):c.*739T>C rs559831804 0.00024
NM_000043.6(FAS):c.*582T>G rs542335688 0.00023
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) rs201035873 0.00023
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) rs143110172 0.00022
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) rs150078153 0.00021
NM_032977.4(CASP10):c.1347T>C (p.Phe449=) rs147814983 0.00021
NM_000043.6(FAS):c.*84G>A rs754986111 0.00020
NM_032977.4(CASP10):c.930G>T (p.Leu310=) rs149096064 0.00020
NM_001370466.1(NOD2):c.*1023C>T rs5743299 0.00019
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) rs104895430 0.00019
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) rs200035357 0.00018
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) rs201586544 0.00018
NM_000639.3(FASLG):c.*3G>T rs200021473 0.00016
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) rs145190613 0.00016
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) rs149870902 0.00016
NM_001370466.1(NOD2):c.450G>A (p.Pro150=) rs775281342 0.00016
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) rs148561632 0.00014
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) rs149338478 0.00014
NM_032977.4(CASP10):c.*230G>A rs565567149 0.00014
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=) rs758223679 0.00013
NM_032977.4(CASP10):c.1415+8C>G rs200638628 0.00013
NM_032977.4(CASP10):c.666A>G (p.Thr222=) rs116125703 0.00013
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr) rs113706344 0.00012
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001370466.1(NOD2):c.2382-9T>A rs201759367 0.00011
NM_001370466.1(NOD2):c.565+15T>C rs765487015 0.00011
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_000043.6(FAS):c.*853C>T rs770098016 0.00010
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) rs149002807 0.00009
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) rs104895484 0.00008
NM_000043.6(FAS):c.*174A>G rs776971935 0.00007
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) rs560242309 0.00006
NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn) rs200665127 0.00006
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00006
NM_080628.3(TLDC2):c.*18-50G>A rs188941712 0.00006
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) rs139571975 0.00005
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu) rs200427297 0.00005
NM_001370466.1(NOD2):c.-8-2258C>T rs117611225 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) rs529640892 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_001370466.1(NOD2):c.*8G>A rs199475923 0.00003
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr) rs571102620 0.00003
NM_032977.4(CASP10):c.*846A>G rs41529249 0.00003
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_000043.6(FAS):c.30+12C>T rs558072404 0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=) rs746017530 0.00001
NM_000639.3(FASLG):c.451+8T>A rs372021169 0.00001
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His) rs554887705 0.00001
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) rs369957746 0.00001
NM_001378687.1(ATP2C1):c.-33T>C rs201306089 0.00001
NM_032977.4(CASP10):c.*3019C>T rs548104022 0.00001
NM_032977.4(CASP10):c.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.923-13T>G rs776612061 0.00001
NM_000639.3(FASLG):c.*601GT[13] rs10640513
NM_000639.3(FASLG):c.*601GT[17] rs10640513
NM_001370466.1(NOD2):c.*183C>T rs547264433
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) rs777949388
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) rs2066845
NM_001370466.1(NOD2):c.747G>A (p.Leu249=) rs763504952
NM_001372051.1(CASP8):c.*927AT[6] rs397897264
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001378687.1(ATP2C1):c.-180-33C>A rs181664730
NM_001378687.1(ATP2C1):c.531+10G>A rs559826369
NM_032977.4(CASP10):c.*1520C>T rs41331447
NM_032977.4(CASP10):c.*1982del rs111572089
NM_032977.4(CASP10):c.174C>T (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.347+9G>T rs7608787
NM_032977.4(CASP10):c.923-12G>T rs201904750

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.