ClinVar Miner

List of variants studied for X-linked lymphoproliferative syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 286
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002351.4(SH2D1A):c.-346C>T rs12164382 0.43694
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001167.4(XIAP):c.276T>C (p.Phe92=) rs45575532 0.00080
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_001167.4(XIAP):c.688G>A (p.Val230Ile) rs144884904 0.00036
NM_001167.4(XIAP):c.978G>A (p.Gly326=) rs376282989 0.00035
NM_001167.4(XIAP):c.309G>A (p.Thr103=) rs140230812 0.00034
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_001167.4(XIAP):c.23G>A (p.Gly8Glu) rs140889955 0.00024
NM_001167.4(XIAP):c.455C>G (p.Thr152Ser) rs150317928 0.00020
NM_001167.4(XIAP):c.1242A>G (p.Leu414=) rs147262472 0.00016
NM_001167.4(XIAP):c.73G>C (p.Glu25Gln) rs781204574 0.00013
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys) rs777303823 0.00012
NM_001167.4(XIAP):c.1056+19A>T rs769758486 0.00011
NM_001167.4(XIAP):c.1230G>A (p.Leu410=) rs761489362 0.00010
NM_001167.4(XIAP):c.499T>C (p.Leu167=) rs374298061 0.00009
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met) rs199639961 0.00009
NM_002351.5(SH2D1A):c.138-19G>A rs370365609 0.00009
NM_001167.4(XIAP):c.1096A>G (p.Ile366Val) rs766720607 0.00008
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln) rs770122195 0.00008
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly) rs182340753 0.00007
NM_001167.4(XIAP):c.1100-19T>G rs28382736 0.00006
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly) rs200273554 0.00006
NM_001167.4(XIAP):c.296A>G (p.Glu99Gly) rs769904534 0.00006
NM_001167.4(XIAP):c.1149G>A (p.Gly383=) rs374184914 0.00005
NM_001167.4(XIAP):c.115G>T (p.Gly39Cys) rs775237858 0.00005
NM_001167.4(XIAP):c.1194G>T (p.Gln398His) rs776377233 0.00005
NM_001167.4(XIAP):c.1057-7G>A rs753427928 0.00003
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala) rs377097035 0.00003
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn) rs772035642 0.00003
NM_001167.4(XIAP):c.1196T>G (p.Ile399Arg) rs753415949 0.00003
NM_001167.4(XIAP):c.368G>A (p.Ser123Asn) rs368343771 0.00003
NM_001167.4(XIAP):c.870T>C (p.Tyr290=) rs770461720 0.00003
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln) rs954824608 0.00003
NM_001167.4(XIAP):c.1071G>A (p.Glu357=) rs369835712 0.00002
NM_001167.4(XIAP):c.1191T>G (p.Ile397Met) rs760574724 0.00002
NM_001167.4(XIAP):c.1300+7A>G rs749438405 0.00002
NM_001167.4(XIAP):c.1328G>A (p.Arg443His) rs1173411245 0.00002
NM_001167.4(XIAP):c.1437C>T (p.Asp479=) rs781127670 0.00002
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys) rs1330516966 0.00002
NM_001167.4(XIAP):c.283G>A (p.Gly95Ser) rs745844064 0.00002
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys) rs1239294219 0.00002
NM_001167.4(XIAP):c.435G>T (p.Gln145His) rs759909620 0.00002
NM_001167.4(XIAP):c.446T>C (p.Ile149Thr) rs774308309 0.00002
NM_001167.4(XIAP):c.683T>G (p.Phe228Cys) rs140973844 0.00002
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg) rs1303880423 0.00002
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter) rs773573633 0.00001
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala) rs148080493 0.00001
NM_001167.4(XIAP):c.1100-14A>C rs753279953 0.00001
NM_001167.4(XIAP):c.1416A>G (p.Lys472=) rs777650841 0.00001
NM_001167.4(XIAP):c.1454A>G (p.Tyr485Cys) rs1417605676 0.00001
NM_001167.4(XIAP):c.183G>T (p.Val61=) rs144938731 0.00001
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala) rs1481750191 0.00001
NM_001167.4(XIAP):c.308C>T (p.Thr103Met) rs749157868 0.00001
NM_001167.4(XIAP):c.359A>G (p.Tyr120Cys) rs773543430 0.00001
NM_001167.4(XIAP):c.549G>A (p.Glu183=) rs1308704581 0.00001
NM_001167.4(XIAP):c.606T>C (p.Cys202=) rs777129433 0.00001
NM_001167.4(XIAP):c.697C>T (p.Arg233Trp) rs906431319 0.00001
NM_001167.4(XIAP):c.716G>A (p.Ser239Asn) rs751640412 0.00001
NM_001167.4(XIAP):c.838A>C (p.Asn280His) rs758057572 0.00001
NM_001167.4(XIAP):c.878-4G>A rs371671137 0.00001
NM_001167.4(XIAP):c.915A>T (p.Gly305=) rs755919911 0.00001
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile) rs1280883217 0.00001
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=) rs1484311033 0.00001
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=) rs1569527113 0.00001
NM_002351.5(SH2D1A):c.144C>T (p.His48=) rs765804146 0.00001
NM_002351.5(SH2D1A):c.201+4T>G rs201574927 0.00001
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=) rs775759946 0.00001
NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val) rs757900199 0.00001
NM_002351.5(SH2D1A):c.346+6A>T rs746265444 0.00001
NM_002351.5(SH2D1A):c.373C>T (p.Leu125=) rs1230442586 0.00001
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser) rs148554414 0.00001
NC_000023.10:g.(?_122318388)_(123505241_?)del
NC_000023.10:g.(?_123019513)_(123020409_?)dup
NC_000023.10:g.(?_123019513)_(123041031_?)dup
NC_000023.10:g.(?_123480147)_(123480649_?)del
NC_000023.10:g.(?_123480147)_(123505241_?)dup
NC_000023.10:g.(?_123480493)_(123505241_?)del
NC_000023.10:g.(?_123494030)_(123499653_?)del
NC_000023.10:g.(?_123499591)_(123499694_?)del
NC_000023.11:g.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123888738_?)del
NC_000023.11:g.(?_123885637)_(123892793_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_123891218)_(123892793_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs) rs2148096182
NM_001167.4(XIAP):c.1015A>G (p.Ile339Val)
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys) rs2053404854
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.4(XIAP):c.1042C>T (p.Leu348Phe)
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys) rs773573633
NM_001167.4(XIAP):c.104A>G (p.Asn35Ser)
NM_001167.4(XIAP):c.1053T>C (p.Cys351=) rs2053405322
NM_001167.4(XIAP):c.1056+13T>A
NM_001167.4(XIAP):c.1056+13_1056+14del rs1491462505
NM_001167.4(XIAP):c.1056+21_1056+22del rs2148096290
NM_001167.4(XIAP):c.1056+28_1056+60dup
NM_001167.4(XIAP):c.1057-20A>G
NM_001167.4(XIAP):c.1066A>G (p.Thr356Ala)
NM_001167.4(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.4(XIAP):c.1090A>G (p.Arg364Gly)
NM_001167.4(XIAP):c.1099+20A>G rs751904914
NM_001167.4(XIAP):c.1099+2T>C rs2148097889
NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn)
NM_001167.4(XIAP):c.1100-14A>T
NM_001167.4(XIAP):c.1100-8del
NM_001167.4(XIAP):c.1101T>C (p.Asp367=) rs2148107324
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val) rs2053505712
NM_001167.4(XIAP):c.1122T>C (p.Pro374=)
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile) rs2053506466
NM_001167.4(XIAP):c.1202G>A (p.Gly401Glu) rs2053506750
NM_001167.4(XIAP):c.1207A>G (p.Asn403Asp)
NM_001167.4(XIAP):c.1234G>T (p.Ala412Ser) rs2148107469
NM_001167.4(XIAP):c.124G>A (p.Val42Ile)
NM_001167.4(XIAP):c.1257A>G (p.Lys419=)
NM_001167.4(XIAP):c.1259A>G (p.Asp420Gly)
NM_001167.4(XIAP):c.1264A>G (p.Met422Val)
NM_001167.4(XIAP):c.1299A>G (p.Lys433=)
NM_001167.4(XIAP):c.1300+10G>T
NM_001167.4(XIAP):c.1300+12T>G
NM_001167.4(XIAP):c.1300+17T>C rs2148107543
NM_001167.4(XIAP):c.1301-17A>T
NM_001167.4(XIAP):c.1301-1G>A
NM_001167.4(XIAP):c.1301-20A>C rs1424655367
NM_001167.4(XIAP):c.1301-6_1301-5del
NM_001167.4(XIAP):c.1314A>G (p.Glu438=) rs199833128
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter) rs2148112149
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) rs2148112156
NM_001167.4(XIAP):c.1323A>G (p.Leu441=) rs2148112163
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys) rs1489246570
NM_001167.4(XIAP):c.134C>T (p.Ser45Leu)
NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr)
NM_001167.4(XIAP):c.1380C>T (p.Ile460=)
NM_001167.4(XIAP):c.1381G>A (p.Val461Ile)
NM_001167.4(XIAP):c.1386del (p.Phe462fs) rs2148112215
NM_001167.4(XIAP):c.140T>C (p.Leu47Pro)
NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)
NM_001167.4(XIAP):c.1429G>A (p.Ala477Thr)
NM_001167.4(XIAP):c.1452C>T (p.Cys484=)
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs) rs2053561076
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
NM_001167.4(XIAP):c.168T>C (p.Gly56=)
NM_001167.4(XIAP):c.171A>G (p.Glu57=) rs1556404487
NM_001167.4(XIAP):c.180C>T (p.Thr60=)
NM_001167.4(XIAP):c.181G>A (p.Val61Met) rs2148089430
NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)
NM_001167.4(XIAP):c.18T>C (p.Phe6=)
NM_001167.4(XIAP):c.203C>T (p.Ala68Val) rs2148089461
NM_001167.4(XIAP):c.209T>G (p.Val70Gly)
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter) rs2053346219
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs) rs2053346343
NM_001167.4(XIAP):c.249C>T (p.His83=)
NM_001167.4(XIAP):c.251G>C (p.Arg84Thr)
NM_001167.4(XIAP):c.261C>T (p.Ser87=)
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly) rs2053346722
NM_001167.4(XIAP):c.300T>C (p.Asn100=) rs2148089584
NM_001167.4(XIAP):c.320A>G (p.Asn107Ser) rs28382721
NM_001167.4(XIAP):c.327T>C (p.Gly109=)
NM_001167.4(XIAP):c.369C>T (p.Ser123=)
NM_001167.4(XIAP):c.371del (p.Arg124fs)
NM_001167.4(XIAP):c.376C>G (p.His126Asp) rs2053348107
NM_001167.4(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.4(XIAP):c.408T>C (p.His136=)
NM_001167.4(XIAP):c.410C>G (p.Ala137Gly)
NM_001167.4(XIAP):c.421_422del (p.Leu141fs) rs2053348573
NM_001167.4(XIAP):c.438T>G (p.Val146=)
NM_001167.4(XIAP):c.445A>G (p.Ile149Val)
NM_001167.4(XIAP):c.446dup (p.Ser150fs) rs2053348979
NM_001167.4(XIAP):c.459A>G (p.Ile153Met) rs2148089808
NM_001167.4(XIAP):c.464C>T (p.Pro155Leu)
NM_001167.4(XIAP):c.465G>A (p.Pro155=)
NM_001167.4(XIAP):c.471C>T (p.Asn157=)
NM_001167.4(XIAP):c.478A>G (p.Met160Val)
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys) rs2053349276
NM_001167.4(XIAP):c.486T>C (p.Ser162=) rs2053349352
NM_001167.4(XIAP):c.491A>G (p.Glu164Gly)
NM_001167.4(XIAP):c.492A>T (p.Glu164Asp)
NM_001167.4(XIAP):c.509T>A (p.Phe170Tyr) rs2148089869
NM_001167.4(XIAP):c.532C>T (p.His178Tyr)
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001167.4(XIAP):c.588C>T (p.Asp196=)
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter) rs2053350325
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del) rs2148089962
NM_001167.4(XIAP):c.60del (p.Glu21fs) rs2148089318
NM_001167.4(XIAP):c.61G>A (p.Glu21Lys)
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly) rs2053350739
NM_001167.4(XIAP):c.643C>T (p.Arg215Cys)
NM_001167.4(XIAP):c.659A>G (p.His220Arg)
NM_001167.4(XIAP):c.660C>G (p.His220Gln)
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
NM_001167.4(XIAP):c.666A>G (p.Arg222=)
NM_001167.4(XIAP):c.683T>C (p.Phe228Ser)
NM_001167.4(XIAP):c.693G>A (p.Leu231=)
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.4(XIAP):c.713G>A (p.Arg238Gln) rs1226148384
NM_001167.4(XIAP):c.722C>T (p.Ser241Phe)
NM_001167.4(XIAP):c.72A>G (p.Val24=) rs1209504379
NM_001167.4(XIAP):c.737C>T (p.Ser246Phe) rs1602544652
NM_001167.4(XIAP):c.738T>C (p.Ser246=)
NM_001167.4(XIAP):c.744G>C (p.Arg248Ser)
NM_001167.4(XIAP):c.746A>G (p.Asn249Ser)
NM_001167.4(XIAP):c.755dup (p.Asn252fs) rs2148090158
NM_001167.4(XIAP):c.776A>G (p.Asn259Ser) rs1602544717
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser) rs2148090201
NM_001167.4(XIAP):c.802C>T (p.Arg268Trp) rs2148090224
NM_001167.4(XIAP):c.804G>A (p.Arg268=)
NM_001167.4(XIAP):c.805A>C (p.Ile269Leu) rs2148090233
NM_001167.4(XIAP):c.807C>G (p.Ile269Met)
NM_001167.4(XIAP):c.819G>A (p.Gly273=) rs2148090248
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys) rs2053353262
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln) rs777303823
NM_001167.4(XIAP):c.877+8_877+9del rs1355498168
NM_001167.4(XIAP):c.878-5C>G rs367801081
NM_001167.4(XIAP):c.878-5C>T rs367801081
NM_001167.4(XIAP):c.887A>G (p.Asp296Gly) rs2148092754
NM_001167.4(XIAP):c.894_898del (p.Lys299fs) rs2148092759
NM_001167.4(XIAP):c.921_924del (p.Thr308fs) rs2148092792
NM_001167.4(XIAP):c.934C>T (p.Pro312Ser)
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter) rs1602546782
NM_001167.4(XIAP):c.965A>G (p.Lys322Arg)
NM_001167.4(XIAP):c.977+3A>G rs2053376412
NM_001167.4(XIAP):c.977+4A>G
NM_001167.4(XIAP):c.978-10_978-4del rs1602549230
NM_001167.4(XIAP):c.978-2A>G rs2148096152
NM_001167.4(XIAP):c.978-6G>A
NM_001167.4(XIAP):c.978-9A>G rs1602549234
NM_001167.4(XIAP):c.979T>A (p.Cys327Ser)
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)
NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)
NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.5(SH2D1A):c.120G>A (p.Val40=)
NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr) rs2059993925
NM_002351.5(SH2D1A):c.138-1G>A
NM_002351.5(SH2D1A):c.138-7T>C
NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)
NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val) rs2147531318
NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln) rs111033630
NM_002351.5(SH2D1A):c.183A>C (p.Thr61=) rs1569527577
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) rs746035909
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.201+12T>C
NM_002351.5(SH2D1A):c.201+1G>A
NM_002351.5(SH2D1A):c.201+20del
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_002351.5(SH2D1A):c.202-10T>C
NM_002351.5(SH2D1A):c.202-17G>A rs2147534006
NM_002351.5(SH2D1A):c.202-5del rs767110636
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.219T>C (p.His73=)
NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=) rs2147534039
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs) rs2147534047
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu) rs775759946
NM_002351.5(SH2D1A):c.292C>T (p.Leu98=)
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353
NM_002351.5(SH2D1A):c.312G>A (p.Lys104=)
NM_002351.5(SH2D1A):c.330T>C (p.Ser110=) rs2060066337
NM_002351.5(SH2D1A):c.347-32_347-28del rs200198093
NM_002351.5(SH2D1A):c.351A>G (p.Ile117Met) rs2147534671
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu) rs2060068693
NM_002351.5(SH2D1A):c.366T>C (p.Asp122=)
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser) rs2060068721
NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly) rs111033625
NM_002351.5(SH2D1A):c.45C>T (p.Thr15=)
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup) rs2059993641
NM_002351.5(SH2D1A):c.84C>T (p.Ser28=)
NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=)
NM_002351.5(SH2D1A):c.96G>A (p.Arg32=)

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