ClinVar Miner

List of variants in gene CASP8 studied for type IV hypersensitivity disease

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.1305-19A>G rs3769818 0.71850
NM_001372051.1(CASP8):c.*122G>C rs3185378 0.55328
NM_001372051.1(CASP8):c.*845T>A rs13113 0.33069
NM_001372051.1(CASP8):c.*83G>A rs17860428 0.13714
NM_001372051.1(CASP8):c.*175C>T rs2141331 0.12768
NM_001372051.1(CASP8):c.*464T>C rs1045494 0.09887
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) rs1045487 0.09873
NM_001372051.1(CASP8):c.*99G>A rs13425383 0.05700
NM_001372051.1(CASP8):c.*429A>G rs17860433 0.03449
NM_001372051.1(CASP8):c.*411G>C rs17860432 0.02398
NM_001372051.1(CASP8):c.*60C>T rs13425113 0.00993
NM_001372051.1(CASP8):c.*71G>A rs41309822 0.00687
NM_001228.5(CASP8):c.-143T>G rs34609836 0.00568
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_001372051.1(CASP8):c.*166G>C rs35474602 0.00369
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_001372051.1(CASP8):c.655T>A (p.Ser219Thr) rs35976359 0.00241
NM_001372051.1(CASP8):c.*316C>T rs35419671 0.00178
NM_001372051.1(CASP8):c.803-2986C>G rs372086843 0.00157
NM_001372051.1(CASP8):c.*107C>T rs184368293 0.00123
NM_001372051.1(CASP8):c.*755G>A rs145519245 0.00106
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) rs35142591 0.00051
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_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 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_001372051.1(CASP8):c.*98C>T rs36155452 0.00016
NM_001372051.1(CASP8):c.*686C>T rs1021711220 0.00014
NM_001372051.1(CASP8):c.*591T>C rs187758494 0.00011
NM_001372051.1(CASP8):c.1182G>A (p.Pro394=) rs190041873 0.00010
NM_001372051.1(CASP8):c.1266C>T (p.Ile422=) rs781707597 0.00009
NM_001372051.1(CASP8):c.357T>C (p.Ser119=) rs560858360 0.00009
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_001372051.1(CASP8):c.306-1928C>T rs534884641 0.00006
NM_001372051.1(CASP8):c.852C>T (p.His284=) rs138030956 0.00006
NM_001372051.1(CASP8):c.1086G>C (p.Gly362=) rs377204617 0.00005
NM_001372051.1(CASP8):c.1169C>T (p.Thr390Met) rs373673288 0.00005
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_001372051.1(CASP8):c.363G>A (p.Lys121=) rs773845990 0.00005
NM_001372051.1(CASP8):c.75G>A (p.Leu25=) rs748943405 0.00005
NM_001372051.1(CASP8):c.*891C>T rs1316267855 0.00004
NM_001372051.1(CASP8):c.431T>C (p.Ile144Thr) rs142688117 0.00004
NM_001372051.1(CASP8):c.667G>A (p.Asp223Asn) rs772942337 0.00004
NM_001372051.1(CASP8):c.756C>T (p.Pro252=) rs751874097 0.00004
NM_001372051.1(CASP8):c.972T>C (p.Tyr324=) rs368087314 0.00004
NM_001372051.1(CASP8):c.1048G>A (p.Gly350Arg) rs202185417 0.00003
NM_001372051.1(CASP8):c.1128G>C (p.Glu376Asp) rs549753655 0.00003
NM_001372051.1(CASP8):c.306-1980C>A rs376590303 0.00003
NM_001372051.1(CASP8):c.660+14T>A rs1422636526 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_001372051.1(CASP8):c.1137C>T (p.Pro379=) rs369704935 0.00002
NM_001372051.1(CASP8):c.120T>G (p.Asp40Glu) rs759793127 0.00002
NM_001372051.1(CASP8):c.1310A>T (p.Asp437Val) rs561729612 0.00002
NM_001372051.1(CASP8):c.306-1910G>A rs373232880 0.00002
NM_001372051.1(CASP8):c.306-1915A>G rs761301334 0.00002
NM_001372051.1(CASP8):c.306-1935G>A rs774427459 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.803-14A>T rs1419441273 0.00002
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) rs199934929 0.00002
NM_001372051.1(CASP8):c.94C>G (p.Gln32Glu) rs999368756 0.00002
NM_001228.5(CASP8):c.-26-6994T>C rs905759639 0.00001
NM_001228.5(CASP8):c.-83T>C rs1275984964 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.1001A>G (p.Tyr334Cys) rs772661314 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.1132C>A (p.Gln378Lys) rs1164535571 0.00001
NM_001372051.1(CASP8):c.1158A>G (p.Ser386=) rs773959767 0.00001
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_001372051.1(CASP8):c.1201C>T (p.Leu401=) rs752967014 0.00001
NM_001372051.1(CASP8):c.1215T>C (p.Thr405=) rs764213462 0.00001
NM_001372051.1(CASP8):c.1304+9_1304+96del rs1576390913 0.00001
NM_001372051.1(CASP8):c.1307G>A (p.Gly436Asp) rs1235505270 0.00001
NM_001372051.1(CASP8):c.195G>A (p.Leu65=) rs1304411859 0.00001
NM_001372051.1(CASP8):c.234C>T (p.Tyr78=) rs770724721 0.00001
NM_001372051.1(CASP8):c.251A>G (p.Glu84Gly) rs1292450812 0.00001
NM_001372051.1(CASP8):c.260A>G (p.Glu87Gly) rs763043263 0.00001
NM_001372051.1(CASP8):c.267A>G (p.Glu89=) rs1415027065 0.00001
NM_001372051.1(CASP8):c.286G>T (p.Ala96Ser) rs762297913 0.00001
NM_001372051.1(CASP8):c.289C>A (p.Gln97Lys) rs1489585227 0.00001
NM_001372051.1(CASP8):c.306-1911G>A rs796850798 0.00001
NM_001372051.1(CASP8):c.306-1993C>T rs773675844 0.00001
NM_001372051.1(CASP8):c.306-2014C>T rs574310665 0.00001
NM_001372051.1(CASP8):c.306-2017G>T rs1487695452 0.00001
NM_001372051.1(CASP8):c.311T>C (p.Met104Thr) rs1387029323 0.00001
NM_001372051.1(CASP8):c.399G>A (p.Leu133=) rs150515363 0.00001
NM_001372051.1(CASP8):c.411+1G>C rs1948252170 0.00001
NM_001372051.1(CASP8):c.411+7C>T rs1158042987 0.00001
NM_001372051.1(CASP8):c.411+9del rs1948253453 0.00001
NM_001372051.1(CASP8):c.412-7C>T rs1264825227 0.00001
NM_001372051.1(CASP8):c.414C>T (p.Asn138=) rs746428268 0.00001
NM_001372051.1(CASP8):c.465A>G (p.Gly155=) rs1224509970 0.00001
NM_001372051.1(CASP8):c.469T>C (p.Leu157=) rs759581547 0.00001
NM_001372051.1(CASP8):c.596-12C>T rs756817274 0.00001
NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp) rs553241803 0.00001
NM_001372051.1(CASP8):c.660+7G>A rs766429077 0.00001
NM_001372051.1(CASP8):c.697C>T (p.Arg233Trp) rs760898260 0.00001
NM_001372051.1(CASP8):c.741A>G (p.Ala247=) rs776036102 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001372051.1(CASP8):c.778A>G (p.Arg260Gly) rs1350639573 0.00001
NM_001372051.1(CASP8):c.802+4C>A rs746813867 0.00001
NM_001372051.1(CASP8):c.819C>T (p.Thr273=) rs1369950873 0.00001
NM_001372051.1(CASP8):c.84C>T (p.Asp28=) rs368413113 0.00001
NM_001372051.1(CASP8):c.92C>T (p.Pro31Leu) rs748087575 0.00001
NM_001372051.1(CASP8):c.969C>T (p.Ile323=) rs1447639128 0.00001
NC_000002.11:g.(?_202131210)_(202134348_?)del
NC_000002.11:g.(?_202131210)_(202137519_?)dup
NC_000002.11:g.(?_202131210)_(202151317_?)del
NC_000002.12:g.(?_201276807)_(201276988_?)dup
NM_001228.5(CASP8):c.-117C>A rs1945936282
NM_001228.5(CASP8):c.-208A>G rs1576164512
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.*927AT[6] rs397897264
NM_001372051.1(CASP8):c.1012T>C (p.Ser338Pro) rs771197994
NM_001372051.1(CASP8):c.102G>A (p.Lys34=) rs760545881
NM_001372051.1(CASP8):c.1041C>A (p.Ser347=)
NM_001372051.1(CASP8):c.1042C>G (p.Leu348Val)
NM_001372051.1(CASP8):c.1057A>G (p.Lys353Glu)
NM_001372051.1(CASP8):c.1071T>A (p.Ile357=)
NM_001372051.1(CASP8):c.1103G>C (p.Gly368Ala) rs758525204
NM_001372051.1(CASP8):c.1104T>C (p.Gly368=) rs1949494032
NM_001372051.1(CASP8):c.1109C>T (p.Pro370Leu) rs2125485864
NM_001372051.1(CASP8):c.1118C>T (p.Thr373Ile) rs2125486142
NM_001372051.1(CASP8):c.112A>G (p.Ile38Val)
NM_001372051.1(CASP8):c.1161A>C (p.Ser387=) rs887917071
NM_001372051.1(CASP8):c.1170G>A (p.Thr390=) rs539029508
NM_001372051.1(CASP8):c.1175A>G (p.Tyr392Cys)
NM_001372051.1(CASP8):c.1197T>C (p.Phe399=)
NM_001372051.1(CASP8):c.1198C>A (p.Leu400Met) rs2125488841
NM_001372051.1(CASP8):c.1200G>A (p.Leu400=) rs1949499954
NM_001372051.1(CASP8):c.1200_1201delinsTT (p.Leu400_Leu401=)
NM_001372051.1(CASP8):c.1211C>G (p.Ala404Gly) rs2125489288
NM_001372051.1(CASP8):c.1264A>C (p.Ile422Leu)
NM_001372051.1(CASP8):c.1292A>T (p.Glu431Val) rs2125491805
NM_001372051.1(CASP8):c.1294C>T (p.Arg432Ter)
NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter) rs1368296717
NM_001372051.1(CASP8):c.1304+2T>C rs768000891
NM_001372051.1(CASP8):c.1304G>A (p.Arg435Gln)
NM_001372051.1(CASP8):c.1305-7A>G
NM_001372051.1(CASP8):c.1322C>T (p.Thr441Ile)
NM_001372051.1(CASP8):c.1349_1352del (p.Val450fs)
NM_001372051.1(CASP8):c.1378G>T (p.Gly460Trp)
NM_001372051.1(CASP8):c.1380G>C (p.Gly460=) rs2125511554
NM_001372051.1(CASP8):c.1383A>G (p.Lys461=) rs2125511633
NM_001372051.1(CASP8):c.1415A>G (p.Lys472Arg)
NM_001372051.1(CASP8):c.1430C>T (p.Pro477Leu) rs1294147397
NM_001372051.1(CASP8):c.155G>A (p.Arg52Lys)
NM_001372051.1(CASP8):c.159G>C (p.Met53Ile) rs200261147
NM_001372051.1(CASP8):c.174T>C (p.Asn58=)
NM_001372051.1(CASP8):c.198C>T (p.Leu66=)
NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter) rs777784105
NM_001372051.1(CASP8):c.23A>G (p.Tyr8Cys) rs895052255
NM_001372051.1(CASP8):c.244A>G (p.Arg82Gly)
NM_001372051.1(CASP8):c.25G>A (p.Asp9Asn)
NM_001372051.1(CASP8):c.262A>G (p.Arg88Gly)
NM_001372051.1(CASP8):c.26A>G (p.Asp9Gly) rs1270676492
NM_001372051.1(CASP8):c.293T>G (p.Ile98Ser)
NM_001372051.1(CASP8):c.305+14_305+19del
NM_001372051.1(CASP8):c.305+16del
NM_001372051.1(CASP8):c.305+18T>C
NM_001372051.1(CASP8):c.306-1892T>A
NM_001372051.1(CASP8):c.306-1926A>G rs1252394250
NM_001372051.1(CASP8):c.306-1930dup
NM_001372051.1(CASP8):c.306-1949_306-1947delinsC rs765672355
NM_001372051.1(CASP8):c.306-1954C>G rs988514241
NM_001372051.1(CASP8):c.306-1954_306-1953del
NM_001372051.1(CASP8):c.306-1971A>G rs1559354162
NM_001372051.1(CASP8):c.306-1974C>A
NM_001372051.1(CASP8):c.306-1976del
NM_001372051.1(CASP8):c.306-1978G>T
NM_001372051.1(CASP8):c.306-1981del rs776712453
NM_001372051.1(CASP8):c.306-1990A>G
NM_001372051.1(CASP8):c.306-1992G>A
NM_001372051.1(CASP8):c.306-2000C>T
NM_001372051.1(CASP8):c.306-2006G>A
NM_001372051.1(CASP8):c.306-2012T>C rs2125202817
NM_001372051.1(CASP8):c.306-2015C>G rs2125202731
NM_001372051.1(CASP8):c.306-2018G>A
NM_001372051.1(CASP8):c.306-2020T>C rs1175184402
NM_001372051.1(CASP8):c.306-4A>C
NM_001372051.1(CASP8):c.306G>A (p.Arg102=)
NM_001372051.1(CASP8):c.315C>T (p.Leu105=)
NM_001372051.1(CASP8):c.323T>C (p.Ile108Thr)
NM_001372051.1(CASP8):c.329AAG[1] (p.Glu111del) rs763516126
NM_001372051.1(CASP8):c.330A>G (p.Glu110=)
NM_001372051.1(CASP8):c.33G>A (p.Gly11=)
NM_001372051.1(CASP8):c.342A>T (p.Arg114Ser)
NM_001372051.1(CASP8):c.348A>G (p.Glu116=) rs1948247221
NM_001372051.1(CASP8):c.367C>A (p.Leu123Ile)
NM_001372051.1(CASP8):c.397C>G (p.Leu133Val) rs1576325415
NM_001372051.1(CASP8):c.401A>T (p.Asp134Val) rs2125234946
NM_001372051.1(CASP8):c.411+17T>C
NM_001372051.1(CASP8):c.412-10C>T
NM_001372051.1(CASP8):c.412-16T>G rs1559357686
NM_001372051.1(CASP8):c.412-18del
NM_001372051.1(CASP8):c.412-7C>G
NM_001372051.1(CASP8):c.412-9T>G
NM_001372051.1(CASP8):c.415C>A (p.Leu139Met) rs1948345294
NM_001372051.1(CASP8):c.426T>C (p.Ile142=)
NM_001372051.1(CASP8):c.429_430insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAAGCTCCCAAGATGACTACCTCCAGCCTCTGGCCACAGGGAACCTTCTTCATATCCCACAAGCAAAGGAGCTGGATATTTTC (p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe)
NM_001372051.1(CASP8):c.43G>A (p.Asp15Asn) rs1947837560
NM_001372051.1(CASP8):c.455T>G (p.Leu152Arg)
NM_001372051.1(CASP8):c.474C>T (p.Asp158=)
NM_001372051.1(CASP8):c.480G>C (p.Leu160=) rs2125255316
NM_001372051.1(CASP8):c.483A>G (p.Lys161=)
NM_001372051.1(CASP8):c.485G>T (p.Arg162Ile)
NM_001372051.1(CASP8):c.48T>A (p.Ser16Arg) rs1401364865
NM_001372051.1(CASP8):c.491G>T (p.Cys164Phe)
NM_001372051.1(CASP8):c.492_493del (p.Ala165fs)
NM_001372051.1(CASP8):c.495C>T (p.Ala165=)
NM_001372051.1(CASP8):c.505A>C (p.Lys169Gln)
NM_001372051.1(CASP8):c.509G>A (p.Ser170Asn)
NM_001372051.1(CASP8):c.519G>C (p.Lys173Asn) rs1268336616
NM_001372051.1(CASP8):c.519G>T (p.Lys173Asn)
NM_001372051.1(CASP8):c.520A>G (p.Ile174Val) rs1042533208
NM_001372051.1(CASP8):c.550+11C>G rs1559358136
NM_001372051.1(CASP8):c.550+17A>G
NM_001372051.1(CASP8):c.550+20C>T
NM_001372051.1(CASP8):c.550+3A>G
NM_001372051.1(CASP8):c.607T>A (p.Cys203Ser) rs2125291868
NM_001372051.1(CASP8):c.615A>G (p.Val205=)
NM_001372051.1(CASP8):c.618G>C (p.Met206Ile)
NM_001372051.1(CASP8):c.633T>G (p.Ser211=)
NM_001372051.1(CASP8):c.635C>G (p.Pro212Arg)
NM_001372051.1(CASP8):c.637A>G (p.Arg213Gly) rs2125292256
NM_001372051.1(CASP8):c.651T>G (p.Ser217Arg) rs2125292466
NM_001372051.1(CASP8):c.655T>G (p.Ser219Ala)
NM_001372051.1(CASP8):c.659A>G (p.Gln220Arg) rs1948529448
NM_001372051.1(CASP8):c.661-18T>C
NM_001372051.1(CASP8):c.663T>G (p.Thr221=) rs2125318525
NM_001372051.1(CASP8):c.673G>C (p.Val225Leu) rs2125318792
NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)
NM_001372051.1(CASP8):c.68A>G (p.Lys23Arg)
NM_001372051.1(CASP8):c.697C>G (p.Arg233Gly)
NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln) rs771150445
NM_001372051.1(CASP8):c.701G>A (p.Gly234Glu) rs1390728717
NM_001372051.1(CASP8):c.706T>C (p.Cys236Arg)
NM_001372051.1(CASP8):c.709C>G (p.Leu237Val) rs1948665527
NM_001372051.1(CASP8):c.749A>G (p.Lys250Arg)
NM_001372051.1(CASP8):c.761T>G (p.Leu254Arg) rs1576347035
NM_001372051.1(CASP8):c.775G>A (p.Asp259Asn) rs573893736
NM_001372051.1(CASP8):c.777C>T (p.Asp259=) rs1576347142
NM_001372051.1(CASP8):c.799G>A (p.Ala267Thr) rs2125321684
NM_001372051.1(CASP8):c.802+7T>A
NM_001372051.1(CASP8):c.802+7T>C
NM_001372051.1(CASP8):c.803-10C>T
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG rs1559369386
NM_001372051.1(CASP8):c.808T>C (p.Leu270=)
NM_001372051.1(CASP8):c.812C>G (p.Thr271Ser) rs1553607264
NM_001372051.1(CASP8):c.815C>A (p.Thr272Lys)
NM_001372051.1(CASP8):c.815C>G (p.Thr272Arg) rs139337151
NM_001372051.1(CASP8):c.824A>G (p.Glu275Gly)
NM_001372051.1(CASP8):c.828G>A (p.Glu276=)
NM_001372051.1(CASP8):c.853G>A (p.Asp285Asn) rs1045485
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_001372051.1(CASP8):c.864A>G (p.Thr288=) rs1050673165
NM_001372051.1(CASP8):c.867A>G (p.Val289=)
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter) rs1457092267
NM_001372051.1(CASP8):c.883A>G (p.Ile295Val) rs979257464
NM_001372051.1(CASP8):c.896A>C (p.Tyr299Ser) rs1389538802
NM_001372051.1(CASP8):c.901C>A (p.Leu301Ile)
NM_001372051.1(CASP8):c.912C>T (p.His304=)
NM_001372051.1(CASP8):c.918del (p.Asn306fs)
NM_001372051.1(CASP8):c.91C>T (p.Pro31Ser) rs1559350009
NM_001372051.1(CASP8):c.920T>G (p.Met307Arg)
NM_001372051.1(CASP8):c.927C>T (p.Cys309=)
NM_001372051.1(CASP8):c.93G>A (p.Pro31=) rs772151801
NM_001372051.1(CASP8):c.940A>G (p.Ile314Val) rs2125482048
NM_001372051.1(CASP8):c.948C>G (p.Ser316=)
NM_001372051.1(CASP8):c.957C>T (p.Asp319=) rs2125482288
NM_001372051.1(CASP8):c.959A>C (p.Lys320Thr) rs2125482312
NM_001372051.1(CASP8):c.971A>T (p.Tyr324Phe) rs1949486267
NM_001372051.1(CASP8):c.978T>A (p.Thr326=)
NM_001372051.1(CASP8):c.983dup (p.Gln329fs)
NM_001372051.1(CASP8):c.994C>T (p.Pro332Ser) rs779065011
NM_001372051.1(CASP8):c.99G>T (p.Arg33Ser)

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