ClinVar Miner

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

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 218
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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_015474.4(SAMHD1):c.*629C>T 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_015474.4(SAMHD1):c.*288A>G 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_015474.4(SAMHD1):c.*1008C>G rs116489517 0.00406
NM_001370466.1(NOD2):c.2466-11G>T rs5743285 0.00402
NM_015474.4(SAMHD1):c.*45C>T 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_015474.4(SAMHD1):c.*240G>A 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_015474.4(SAMHD1):c.*71C>A 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.*95T>C rs147220022 0.00038
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 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_015474.4(SAMHD1):c.-10A>G rs199721283 0.00028
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.*120C>T 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

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