ClinVar Miner

List of variants reported as likely benign for autoimmune lymphoproliferative syndrome type 2A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_032977.4(CASP10):c.347+8C>T rs140246829 0.00056
NM_032977.4(CASP10):c.1347T>C (p.Phe449=) rs147814983 0.00021
NM_032977.4(CASP10):c.930G>T (p.Leu310=) rs149096064 0.00020
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00015
NM_032977.4(CASP10):c.1415+8C>G rs200638628 0.00013
NM_032977.4(CASP10):c.789T>C (p.Thr263=) rs532602601 0.00012
NM_032977.4(CASP10):c.1452C>T (p.Asn484=) rs375762220 0.00011
NM_032977.4(CASP10):c.271C>T (p.Leu91=) rs148026756 0.00011
NM_032977.4(CASP10):c.347+10G>T rs377184631 0.00011
NM_032977.4(CASP10):c.1416-4G>C rs371589204 0.00006
NM_032977.4(CASP10):c.715A>T (p.Ser239Cys) rs41473647 0.00006
NM_032977.4(CASP10):c.923-8T>C rs763446704 0.00005
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_032977.4(CASP10):c.750C>T (p.Ser250=) rs757706964 0.00004
NM_032977.4(CASP10):c.1023C>T (p.Cys341=) rs114098515 0.00003
NM_032977.4(CASP10):c.1053C>T (p.Phe351=) rs761697792 0.00003
NM_032977.4(CASP10):c.1350G>T (p.Arg450=) rs370670949 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
NM_032977.4(CASP10):c.348-4T>C rs760190275 0.00002
NM_032977.4(CASP10):c.600T>C (p.Pro200=) rs961213763 0.00002
NM_032977.4(CASP10):c.1038C>T (p.Ala346=) rs745897610 0.00001
NM_032977.4(CASP10):c.1041C>T (p.Asp347=) rs1326342299 0.00001
NM_032977.4(CASP10):c.1113C>T (p.Leu371=) rs1400007183 0.00001
NM_032977.4(CASP10):c.1227C>T (p.Ser409=) rs371401141 0.00001
NM_032977.4(CASP10):c.1395T>C (p.His465=) rs199853584 0.00001
NM_032977.4(CASP10):c.1416-17T>A rs1421515205 0.00001
NM_032977.4(CASP10):c.234C>T (p.Phe78=) rs1332559719 0.00001
NM_032977.4(CASP10):c.360C>T (p.Tyr120=) rs776326308 0.00001
NM_032977.4(CASP10):c.390C>T (p.Asn130=) rs1559293756 0.00001
NM_032977.4(CASP10):c.423G>T (p.Ser141=) rs768931544 0.00001
NM_032977.4(CASP10):c.442-14T>G rs755555484 0.00001
NM_032977.4(CASP10):c.442-20C>G rs1186617226 0.00001
NM_032977.4(CASP10):c.621G>A (p.Ser207=) rs776912309 0.00001
NM_032977.4(CASP10):c.721G>A (p.Gly241Ser) rs779013005 0.00001
NM_032977.4(CASP10):c.722-15T>C rs111916535 0.00001
NM_032977.4(CASP10):c.722-17A>G rs984268760 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 0.00001
NM_032977.4(CASP10):c.894G>A (p.Lys298=) rs775531682 0.00001
NM_032977.4(CASP10):c.923-13T>G rs776612061 0.00001
NM_032977.4(CASP10):c.923-17T>G rs760618594 0.00001
NM_032977.4(CASP10):c.923-18T>G rs773513528 0.00001
NM_032977.4(CASP10):c.984G>A (p.Thr328=) rs965047698 0.00001
NM_032977.3(CASP10):c.-285C>T rs530526445
NM_032977.4(CASP10):c.1068G>A (p.Leu356=) rs111489269
NM_032977.4(CASP10):c.1068G>C (p.Leu356=)
NM_032977.4(CASP10):c.1086A>G (p.Gly362=)
NM_032977.4(CASP10):c.1089T>C (p.Ala363=)
NM_032977.4(CASP10):c.1101G>A (p.Ser367=) rs1300529029
NM_032977.4(CASP10):c.1161T>C (p.Pro387=)
NM_032977.4(CASP10):c.117C>T (p.Leu39=) rs1576060227
NM_032977.4(CASP10):c.1182A>G (p.Lys394=) rs1576127112
NM_032977.4(CASP10):c.1236C>T (p.Ile412=)
NM_032977.4(CASP10):c.1249C>T (p.Leu417=) rs2126048239
NM_032977.4(CASP10):c.1254C>T (p.Asn418=)
NM_032977.4(CASP10):c.126C>T (p.Leu42=) rs146684884
NM_032977.4(CASP10):c.1276C>T (p.Leu426=) rs778094540
NM_032977.4(CASP10):c.1309C>T (p.Leu437=)
NM_032977.4(CASP10):c.1326T>C (p.Thr442=) rs2126048396
NM_032977.4(CASP10):c.1348C>A (p.Arg450=)
NM_032977.4(CASP10):c.1359G>A (p.Glu453=)
NM_032977.4(CASP10):c.1405T>C (p.Leu469=)
NM_032977.4(CASP10):c.1416-12del rs776992048
NM_032977.4(CASP10):c.1416-13T>A rs765334702
NM_032977.4(CASP10):c.1416-4G>A
NM_032977.4(CASP10):c.1422A>G (p.Glu474=)
NM_032977.4(CASP10):c.144C>T (p.Pro48=) rs751018783
NM_032977.4(CASP10):c.1455T>C (p.Asp485=)
NM_032977.4(CASP10):c.1473G>A (p.Val491=) rs2126062098
NM_032977.4(CASP10):c.1519C>T (p.Leu507=)
NM_032977.4(CASP10):c.153G>A (p.Lys51=)
NM_032977.4(CASP10):c.1551G>A (p.Leu517=)
NM_032977.4(CASP10):c.1557A>G (p.Ala519=)
NM_032977.4(CASP10):c.174C>A (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.174C>T (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.211C>T (p.Leu71=)
NM_032977.4(CASP10):c.225C>T (p.Asp75=)
NM_032977.4(CASP10):c.249C>T (p.Leu83=)
NM_032977.4(CASP10):c.270G>A (p.Lys90=)
NM_032977.4(CASP10):c.295A>G (p.Lys99Glu) rs531649047
NM_032977.4(CASP10):c.309G>A (p.Glu103=)
NM_032977.4(CASP10):c.347+11G>A
NM_032977.4(CASP10):c.347+16T>C
NM_032977.4(CASP10):c.347+9G>A rs7608787
NM_032977.4(CASP10):c.348-13G>C
NM_032977.4(CASP10):c.405C>A (p.Ile135=) rs558017414
NM_032977.4(CASP10):c.423G>A (p.Ser141=) rs768931544
NM_032977.4(CASP10):c.441+8G>A
NM_032977.4(CASP10):c.442-18C>G
NM_032977.4(CASP10):c.45C>T (p.Asn15=)
NM_032977.4(CASP10):c.474A>G (p.Lys158=)
NM_032977.4(CASP10):c.534A>G (p.Val178=) rs146233833
NM_032977.4(CASP10):c.544T>C (p.Leu182=)
NM_032977.4(CASP10):c.577+12G>A rs2126017521
NM_032977.4(CASP10):c.577+7A>G
NM_032977.4(CASP10):c.577+8G>T rs2126017514
NM_032977.4(CASP10):c.578-10T>G
NM_032977.4(CASP10):c.578-18C>T
NM_032977.4(CASP10):c.615C>T (p.Ala205=)
NM_032977.4(CASP10):c.684+15G>A
NM_032977.4(CASP10):c.684+20G>A
NM_032977.4(CASP10):c.684+20G>C
NM_032977.4(CASP10):c.684+9A>G
NM_032977.4(CASP10):c.685-15T>C
NM_032977.4(CASP10):c.690G>A (p.Glu230=)
NM_032977.4(CASP10):c.714T>A (p.Gly238=)
NM_032977.4(CASP10):c.721+7A>G
NM_032977.4(CASP10):c.760A>C (p.Arg254=)
NM_032977.4(CASP10):c.810A>G (p.Thr270=) rs759324148
NM_032977.4(CASP10):c.813+9G>A rs764915124
NM_032977.4(CASP10):c.814-16C>G
NM_032977.4(CASP10):c.814-19G>C
NM_032977.4(CASP10):c.814-9T>C rs2126045790
NM_032977.4(CASP10):c.885C>T (p.Thr295=)
NM_032977.4(CASP10):c.90C>T (p.Asn30=) rs1352975177
NM_032977.4(CASP10):c.912T>C (p.His304=) rs2126046002
NM_032977.4(CASP10):c.922+18A>G
NM_032977.4(CASP10):c.922+19G>C rs1559308130
NM_032977.4(CASP10):c.923-12G>A
NM_032977.4(CASP10):c.923-12del rs367989998
NM_032977.4(CASP10):c.924G>A (p.Glu308=)
NM_032977.4(CASP10):c.928C>T (p.Leu310=) rs771922378

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