ClinVar Miner

List of variants reported as uncertain significance 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: 272
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.*612T>A rs868507856 0.05258
NM_000639.3(FASLG):c.*608T>A rs867998396 0.00352
NM_001372051.1(CASP8):c.*316C>T rs35419671 0.00178
NM_015474.4(SAMHD1):c.*505T>A rs747128919 0.00139
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_001372051.1(CASP8):c.*107C>T rs184368293 0.00123
NM_032977.4(CASP10):c.*480A>G rs539196058 0.00104
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
NM_032977.4(CASP10):c.*3613C>T rs774470649 0.00046
NM_032977.4(CASP10):c.*1624T>C rs150841386 0.00044
NM_032977.4(CASP10):c.*2590G>C rs74267227 0.00044
NM_032977.4(CASP10):c.*3420C>T rs536711035 0.00043
NM_032977.4(CASP10):c.*136A>G rs747374452 0.00036
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_001370466.1(NOD2):c.-8-2297C>T rs188341692 0.00032
NM_001370466.1(NOD2):c.*462C>A rs562972090 0.00029
NM_001370466.1(NOD2):c.*382C>T rs535063121 0.00026
NM_001372051.1(CASP8):c.*314C>T rs906158329 0.00026
NM_001228.4(CASP8):c.-310A>G rs527497064 0.00023
NM_001372051.1(CASP8):c.*812T>A rs538987233 0.00022
NM_001370466.1(NOD2):c.*1201T>A rs751525993 0.00021
NM_001370466.1(NOD2):c.*470C>T rs770461687 0.00021
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=) rs576648874 0.00019
NM_001372051.1(CASP8):c.*124C>T rs886055432 0.00018
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_000043.6(FAS):c.*1294A>T rs9658778 0.00016
NM_001372051.1(CASP8):c.*98C>T rs36155452 0.00016
NM_001372051.1(CASP8):c.*686C>T rs1021711220 0.00014
NM_001378687.1(ATP2C1):c.*176T>C rs752881753 0.00014
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00013
NM_001372051.1(CASP8):c.*591T>C rs187758494 0.00011
NM_001378687.1(ATP2C1):c.*1609A>C rs771461939 0.00011
NM_032977.4(CASP10):c.*3488G>A rs773594343 0.00011
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_001370466.1(NOD2):c.*1013A>G rs549273021 0.00009
NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly) rs764052498 0.00009
NM_015474.4(SAMHD1):c.*362G>A rs886056646 0.00009
NM_032977.4(CASP10):c.*1654C>T rs951660640 0.00009
NM_001378687.1(ATP2C1):c.*1573G>A rs997233440 0.00008
NM_001378687.1(ATP2C1):c.2589G>A (p.Pro863=) rs751186032 0.00007
NM_000043.6(FAS):c.*520T>C rs886047462 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_001378687.1(ATP2C1):c.*1255G>A rs886057991 0.00006
NM_032977.4(CASP10):c.*1257G>A rs886055414 0.00006
NM_032977.4(CASP10):c.*3365A>G rs886055429 0.00006
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) rs770997816 0.00006
NM_001370466.1(NOD2):c.789C>T (p.Asp263=) rs749180535 0.00005
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_001378687.1(ATP2C1):c.2067C>T (p.Ile689=) rs148190902 0.00005
NM_032977.4(CASP10):c.*3835G>A rs536525827 0.00005
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00004
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00004
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) rs104895457 0.00004
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) rs373838219 0.00004
NM_001372051.1(CASP8):c.*891C>T rs1316267855 0.00004
NM_001378687.1(ATP2C1):c.*127A>G rs767826698 0.00004
NM_001378687.1(ATP2C1):c.*1604T>C rs1259901914 0.00004
NM_015474.4(SAMHD1):c.*503A>G rs757372495 0.00004
NM_015474.4(SAMHD1):c.*536C>T rs886056645 0.00004
NM_032977.4(CASP10):c.*3437C>A rs1349250158 0.00004
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000138.5(FBN1):c.*1672G>A rs886051231 0.00003
NM_000138.5(FBN1):c.-98G>T rs886051254 0.00003
NM_000639.3(FASLG):c.*120G>A rs886045571 0.00003
NM_001370466.1(NOD2):c.*186C>G rs886052045 0.00003
NM_001372051.1(CASP8):c.306-1980C>A rs376590303 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_001378687.1(ATP2C1):c.-90G>C rs1281629898 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_032977.4(CASP10):c.*1327G>A rs1945654880 0.00003
NM_032977.4(CASP10):c.*1538T>A rs886055416 0.00003
NM_000043.6(FAS):c.*386A>G rs1186205053 0.00002
NM_000043.6(FAS):c.*839A>G rs779728201 0.00002
NM_000043.6(FAS):c.*874T>A rs1436430653 0.00002
NM_000639.3(FASLG):c.*203C>T rs886045572 0.00002
NM_001370466.1(NOD2):c.*394C>T rs886052048 0.00002
NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr) rs367807709 0.00002
NM_001372051.1(CASP8):c.528C>T (p.Asn176=) rs774015258 0.00002
NM_001372051.1(CASP8):c.660+6C>T rs370400442 0.00002
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) rs199934929 0.00002
NM_001378687.1(ATP2C1):c.*1214A>G rs886057990 0.00002
NM_001378687.1(ATP2C1):c.*856G>A rs1267244925 0.00002
NM_015474.4(SAMHD1):c.*871G>A rs1030352932 0.00002
NM_032977.4(CASP10):c.*1366T>C rs886055415 0.00002
NM_032977.4(CASP10):c.*1954C>T rs998383242 0.00002
NM_032977.4(CASP10):c.*2844C>T rs886055424 0.00002
NM_032977.4(CASP10):c.*3478T>G rs886055431 0.00002
NM_032977.4(CASP10):c.*3845C>T rs886535066 0.00002
NM_032977.4(CASP10):c.*733A>T rs1019052979 0.00002
NM_000043.5(FAS):c.-288C>T rs938458478 0.00001
NM_000043.6(FAS):c.*1313G>A rs192544176 0.00001
NM_000043.6(FAS):c.176G>T (p.Cys59Phe) rs886047459 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000138.5(FBN1):c.*202_*203del rs766125141 0.00001
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) rs587782945 0.00001
NM_000639.3(FASLG):c.*119G>A rs753021852 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_001228.5(CASP8):c.-83T>C rs1275984964 0.00001
NM_001370466.1(NOD2):c.*1200A>G rs980810508 0.00001
NM_001370466.1(NOD2):c.*609C>T rs1965489095 0.00001
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) rs104895434 0.00001
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter) rs761449474 0.00001
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys) rs758913334 0.00001
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) rs1292846110 0.00001
NM_001372051.1(CASP8):c.*194T>A rs577963682 0.00001
NM_001372051.1(CASP8):c.*304C>T rs886055433 0.00001
NM_001372051.1(CASP8):c.1012T>G (p.Ser338Ala) rs771197994 0.00001
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) rs768360449 0.00001
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_001372051.1(CASP8):c.469T>C (p.Leu157=) rs759581547 0.00001
NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp) rs553241803 0.00001
NM_001378687.1(ATP2C1):c.*1203del rs886057988 0.00001
NM_001378687.1(ATP2C1):c.*1204A>T rs886057989 0.00001
NM_001378687.1(ATP2C1):c.*1264T>C rs886057992 0.00001
NM_001378687.1(ATP2C1):c.*609A>G rs1198664761 0.00001
NM_001378687.1(ATP2C1):c.*881A>G rs181188000 0.00001
NM_001378687.1(ATP2C1):c.*946T>G rs886057987 0.00001
NM_001378687.1(ATP2C1):c.-180-72G>A rs951311479 0.00001
NM_001378687.1(ATP2C1):c.-66C>T rs886057979 0.00001
NM_001378687.1(ATP2C1):c.1181A>G (p.His394Arg) rs1329817993 0.00001
NM_001378687.1(ATP2C1):c.532-6C>T rs886057981 0.00001
NM_001378687.1(ATP2C1):c.874C>G (p.Leu292Val) rs1349846001 0.00001
NM_001378687.1(ATP2C1):c.899+6T>C rs1430775611 0.00001
NM_015474.4(SAMHD1):c.*104G>C rs570535296 0.00001
NM_015474.4(SAMHD1):c.*648C>T rs1414917474 0.00001
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) rs1451618642 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_032977.4(CASP10):c.*1038C>T rs886055412 0.00001
NM_032977.4(CASP10):c.*1395G>A rs747068686 0.00001
NM_032977.4(CASP10):c.*333C>T rs886055407 0.00001
NM_032977.4(CASP10):c.*3473T>G rs886055430 0.00001
NM_032977.4(CASP10):c.*657G>C rs886055408 0.00001
NM_032977.4(CASP10):c.*732T>A rs886055409 0.00001
NM_032977.4(CASP10):c.*740T>G rs1657316373 0.00001
NM_032977.4(CASP10):c.*905C>T rs886055411 0.00001
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) rs1233007817 0.00001
NM_032977.4(CASP10):c.442-14T>G rs755555484 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 0.00001
NM_000043.6(FAS):c.*1153A>T rs986613204
NM_000043.6(FAS):c.*119C>T rs1848699181
NM_000043.6(FAS):c.*566C>G rs886047463
NM_000043.6(FAS):c.*586G>A rs1848730964
NM_000043.6(FAS):c.*88T>C rs886047461
NM_000043.6(FAS):c.30+6C>T rs1847139427
NM_000043.6(FAS):c.31-9A>G rs886047458
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.652-12T>A rs1214604414
NM_000043.6(FAS):c.676+12A>C rs777843173
NM_000043.6(FAS):c.84T>C (p.Thr28=) rs1848023281
NM_000138.4(FBN1):c.-371T>C rs886051257
NM_000138.4(FBN1):c.-389_-388TC[1] rs886051258
NM_000138.5(FBN1):c.*1007G>T rs886051236
NM_000138.5(FBN1):c.*1396C>T rs886051235
NM_000138.5(FBN1):c.*1477C>A rs886051233
NM_000138.5(FBN1):c.*1635C>A rs886051232
NM_000138.5(FBN1):c.*1733A>G rs886051230
NM_000138.5(FBN1):c.*1943G>T rs886051229
NM_000138.5(FBN1):c.*2078G>T rs886051228
NM_000138.5(FBN1):c.*2260C>A rs886051225
NM_000138.5(FBN1):c.*2421C>A rs886051224
NM_000138.5(FBN1):c.*2443G>T rs886051223
NM_000138.5(FBN1):c.*2533C>A rs886051222
NM_000138.5(FBN1):c.*2578C>T rs761025257
NM_000138.5(FBN1):c.*2594G>T rs886051220
NM_000138.5(FBN1):c.*286C>T rs886051241
NM_000138.5(FBN1):c.*406G>T rs886051240
NM_000138.5(FBN1):c.*938G>T rs886051238
NM_000138.5(FBN1):c.*987C>T rs886051237
NM_000138.5(FBN1):c.-132A>C rs886051255
NM_000138.5(FBN1):c.1468+4C>A rs765579667
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn) rs886051247
NM_000138.5(FBN1):c.6357G>C (p.Val2119=) rs886051246
NM_000639.3(FASLG):c.*601GT[14] rs10640513
NM_000639.3(FASLG):c.*601GT[18] rs10640513
NM_000639.3(FASLG):c.*601GT[19] rs10640513
NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del) rs772297337
NM_000639.3(FASLG):c.42G>C (p.Trp14Cys) rs886045569
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_001228.5(CASP8):c.-117C>A rs1945936282
NM_001228.5(CASP8):c.-208A>G rs1576164512
NM_001370466.1(NOD2):c.*325G>A rs886052046
NM_001370466.1(NOD2):c.*329_*334dup rs886052047
NM_001370466.1(NOD2):c.*422C>G rs886052049
NM_001370466.1(NOD2):c.*64G>C rs1053712094
NM_001370466.1(NOD2):c.-8-2193G>A rs886052043
NM_001370466.1(NOD2):c.-8-2202A>G rs1963694151
NM_001370466.1(NOD2):c.1188G>A (p.Val396=) rs77966199
NM_001370466.1(NOD2):c.1502dup (p.Asp502fs) rs754073471
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser) rs1328584012
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val) rs867131858
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn) rs756184386
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val) rs765335094
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=) rs886052044
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro) rs1965233783
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile) rs1964416023
NM_001372051.1(CASP8):c.*223C>T rs1949586192
NM_001372051.1(CASP8):c.*266C>G rs749953038
NM_001372051.1(CASP8):c.*272A>G rs1439186063
NM_001372051.1(CASP8):c.*346C>T rs1949592559
NM_001372051.1(CASP8):c.*578C>A rs886055434
NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln) rs771150445
NM_001378687.1(ATP2C1):c.*1021G>C rs2062932036
NM_001378687.1(ATP2C1):c.*1471T>A rs878906207
NM_001378687.1(ATP2C1):c.*1564C>T rs886057993
NM_001378687.1(ATP2C1):c.*1786G>A rs2062970980
NM_001378687.1(ATP2C1):c.*322ATCT[1] rs886057984
NM_001378687.1(ATP2C1):c.*343T>A rs777719092
NM_001378687.1(ATP2C1):c.*581T>C rs1236440824
NM_001378687.1(ATP2C1):c.-180-57C>T rs115940289
NM_001378687.1(ATP2C1):c.-64A>G rs886057980
NM_001378687.1(ATP2C1):c.-80TC[1] rs886057978
NM_001378687.1(ATP2C1):c.1309-13T>C rs533035827
NM_001378687.1(ATP2C1):c.1571-11T>C rs2061653618
NM_001378687.1(ATP2C1):c.1905C>A (p.Asn635Lys) rs781604274
NM_001378687.1(ATP2C1):c.2106C>T (p.Phe702=) rs2062610077
NM_001378687.1(ATP2C1):c.2557A>G (p.Met853Val) rs765124724
NM_001378687.1(ATP2C1):c.2694T>C (p.Val898=) rs886057983
NM_001378687.1(ATP2C1):c.41A>G (p.Asn14Ser) rs2059404554
NM_001378687.1(ATP2C1):c.694G>A (p.Val232Ile) rs1173877573
NM_001378687.1(ATP2C1):c.996G>A (p.Val332=) rs886057982
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg) rs1347113886
NM_015474.4(SAMHD1):c.*711A>C rs886056644
NM_015474.4(SAMHD1):c.*717G>C rs1990092783
NM_015474.4(SAMHD1):c.*882T>C rs1990087887
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.4(SAMHD1):c.1271-5G>A rs2063399774
NM_015474.4(SAMHD1):c.1410+12G>T rs2063398513
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
NM_032977.3(CASP10):c.-314G>A rs1284865224
NM_032977.4(CASP10):c.*1022C>T rs1323062174
NM_032977.4(CASP10):c.*1125T>C rs886055413
NM_032977.4(CASP10):c.*116C>A rs912143180
NM_032977.4(CASP10):c.*1258G>T rs1945653563
NM_032977.4(CASP10):c.*1542A>T rs41484449
NM_032977.4(CASP10):c.*1909A>G rs886055417
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2381G>C rs1945684785
NM_032977.4(CASP10):c.*2425C>G rs886055421
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2600G>T rs886055423
NM_032977.4(CASP10):c.*2741C>G rs1481895284
NM_032977.4(CASP10):c.*2869A>C rs886055425
NM_032977.4(CASP10):c.*2927_*2928del rs886055426
NM_032977.4(CASP10):c.*2979C>T rs886055427
NM_032977.4(CASP10):c.*2986C>T rs886055428
NM_032977.4(CASP10):c.*3510G>A rs1945713262
NM_032977.4(CASP10):c.*3591A>G rs1297066259
NM_032977.4(CASP10):c.*607G>A rs1326674355
NM_032977.4(CASP10):c.*632G>A rs1945638403
NM_032977.4(CASP10):c.*911T>G rs1945646004
NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser) rs1945312624
NM_032977.4(CASP10):c.1316G>T (p.Gly439Val) rs764646945
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys) rs565907504
NM_032977.4(CASP10):c.534A>G (p.Val178=) rs146233833
NM_032977.4(CASP10):c.721G>C (p.Gly241Arg) rs779013005

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.