ClinVar Miner

List of variants reported as likely benign for Autoimmune lymphoproliferative syndrome type 2B

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.*71G>A rs41309822 0.00687
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.803-2986C>G rs372086843 0.00157
NM_001372051.1(CASP8):c.*755G>A rs145519245 0.00106
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
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.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.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.756C>T (p.Pro252=) rs751874097 0.00004
NM_001372051.1(CASP8):c.972T>C (p.Tyr324=) rs368087314 0.00004
NM_001372051.1(CASP8):c.1128G>C (p.Glu376Asp) rs549753655 0.00003
NM_001372051.1(CASP8):c.660+14T>A rs1422636526 0.00003
NM_001372051.1(CASP8):c.1137C>T (p.Pro379=) rs369704935 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_001228.5(CASP8):c.-26-8094G>C rs755371396 0.00001
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) rs768360449 0.00001
NM_001372051.1(CASP8):c.1158A>G (p.Ser386=) rs773959767 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.195G>A (p.Leu65=) rs1304411859 0.00001
NM_001372051.1(CASP8):c.234C>T (p.Tyr78=) rs770724721 0.00001
NM_001372051.1(CASP8):c.267A>G (p.Glu89=) rs1415027065 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.399G>A (p.Leu133=) rs150515363 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.596-12C>T rs756817274 0.00001
NM_001372051.1(CASP8):c.660+7G>A rs766429077 0.00001
NM_001372051.1(CASP8):c.741A>G (p.Ala247=) rs776036102 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.969C>T (p.Ile323=) rs1447639128 0.00001
NM_001228.5(CASP8):c.-26-8138T>A rs764133648
NM_001228.5(CASP8):c.-26-8157C>A rs201548238
NM_001372051.1(CASP8):c.102G>A (p.Lys34=) rs760545881
NM_001372051.1(CASP8):c.1041C>A (p.Ser347=)
NM_001372051.1(CASP8):c.1071T>A (p.Ile357=)
NM_001372051.1(CASP8):c.1104T>C (p.Gly368=) rs1949494032
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.1197T>C (p.Phe399=)
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.1305-7A>G
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.174T>C (p.Asn58=)
NM_001372051.1(CASP8):c.198C>T (p.Leu66=)
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.306-2000C>T
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.315C>T (p.Leu105=)
NM_001372051.1(CASP8):c.330A>G (p.Glu110=)
NM_001372051.1(CASP8):c.33G>A (p.Gly11=)
NM_001372051.1(CASP8):c.348A>G (p.Glu116=) rs1948247221
NM_001372051.1(CASP8):c.411+17T>C
NM_001372051.1(CASP8):c.412-10C>T
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.426T>C (p.Ile142=)
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.495C>T (p.Ala165=)
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.615A>G (p.Val205=)
NM_001372051.1(CASP8):c.633T>G (p.Ser211=)
NM_001372051.1(CASP8):c.661-18T>C
NM_001372051.1(CASP8):c.663T>G (p.Thr221=) rs2125318525
NM_001372051.1(CASP8):c.777C>T (p.Asp259=) rs1576347142
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.828G>A (p.Glu276=)
NM_001372051.1(CASP8):c.864A>G (p.Thr288=) rs1050673165
NM_001372051.1(CASP8):c.867A>G (p.Val289=)
NM_001372051.1(CASP8):c.912C>T (p.His304=)
NM_001372051.1(CASP8):c.927C>T (p.Cys309=)
NM_001372051.1(CASP8):c.93G>A (p.Pro31=) rs772151801
NM_001372051.1(CASP8):c.948C>G (p.Ser316=)
NM_001372051.1(CASP8):c.957C>T (p.Asp319=) rs2125482288
NM_001372051.1(CASP8):c.978T>A (p.Thr326=)

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