ClinVar Miner

List of variants reported as likely benign for Predisposition to invasive fungal disease due to CARD9 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052813.5(CARD9):c.508G>A (p.Ala170Thr) rs112244317 0.00169
NM_052813.5(CARD9):c.960G>A (p.Glu320=) rs148158774 0.00050
NM_052813.5(CARD9):c.801C>T (p.Ser267=) rs143884319 0.00043
NM_052813.5(CARD9):c.12C>T (p.Tyr4=) rs35051231 0.00040
NM_052813.5(CARD9):c.1423C>T (p.Arg475Trp) rs202052103 0.00039
NM_052813.5(CARD9):c.406C>T (p.Leu136=) rs143393026 0.00035
NM_052813.5(CARD9):c.1479G>A (p.Arg493=) rs368839062 0.00034
NM_052813.5(CARD9):c.1215G>A (p.Gln405=) rs139454076 0.00029
NM_052813.5(CARD9):c.1260G>A (p.Thr420=) rs142757984 0.00016
NM_052813.5(CARD9):c.627+17C>T rs190628465 0.00013
NM_052813.5(CARD9):c.888G>A (p.Glu296=) rs139247853 0.00012
NM_052813.5(CARD9):c.1212G>A (p.Ala404=) rs574560841 0.00011
NM_052813.5(CARD9):c.951+4G>A rs757527643 0.00011
NM_052813.5(CARD9):c.807+7C>T rs377757780 0.00009
NM_052813.5(CARD9):c.1140G>A (p.Ala380=) rs372539632 0.00008
NM_052813.5(CARD9):c.322+19G>A rs750087571 0.00008
NM_052813.5(CARD9):c.184+15G>A rs770526507 0.00007
NM_052813.5(CARD9):c.660C>T (p.Ala220=) rs372964807 0.00007
NM_052813.5(CARD9):c.708C>T (p.His236=) rs757753324 0.00007
NM_052813.5(CARD9):c.925C>T (p.Arg309Cys) rs535051926 0.00007
NM_052813.5(CARD9):c.1101G>A (p.Leu367=) rs566481759 0.00006
NM_052813.5(CARD9):c.285A>G (p.Thr95=) rs34257731 0.00006
NM_052813.5(CARD9):c.661G>A (p.Glu221Lys) rs200735402 0.00006
NM_052813.5(CARD9):c.666C>T (p.Asp222=) rs375985866 0.00006
NM_052813.5(CARD9):c.952-12C>T rs541356831 0.00006
NM_052813.5(CARD9):c.1078-6C>T rs769142671 0.00005
NM_052813.5(CARD9):c.1358-19G>A rs768908899 0.00005
NM_052813.5(CARD9):c.1590C>T (p.Asn530=) rs199747017 0.00005
NM_052813.5(CARD9):c.322+10G>A rs779524807 0.00005
NM_052813.5(CARD9):c.402C>T (p.Thr134=) rs1240448399 0.00005
NM_052813.5(CARD9):c.628-4G>A rs538579246 0.00005
NM_052813.5(CARD9):c.807+9G>A rs546328076 0.00005
NM_052813.5(CARD9):c.975C>T (p.Phe325=) rs769988935 0.00005
NM_052813.5(CARD9):c.1078-5G>A rs746317918 0.00004
NM_052813.5(CARD9):c.1263C>T (p.Leu421=) rs559114246 0.00004
NM_052813.5(CARD9):c.184+16C>T rs371562408 0.00004
NM_052813.5(CARD9):c.264G>A (p.Pro88=) rs753481864 0.00004
NM_052813.5(CARD9):c.78C>T (p.Asp26=) rs1054511423 0.00004
NM_052813.5(CARD9):c.952-11G>A rs747130473 0.00004
NM_052813.5(CARD9):c.1137C>T (p.Asp379=) rs778454812 0.00003
NM_052813.5(CARD9):c.1461G>A (p.Pro487=) rs937941144 0.00003
NM_052813.5(CARD9):c.185-13C>T rs1238456898 0.00003
NM_052813.5(CARD9):c.323-15T>C rs751375400 0.00003
NM_052813.5(CARD9):c.510C>T (p.Ala170=) rs558145829 0.00003
NM_052813.5(CARD9):c.60G>A (p.Thr20=) rs762485899 0.00003
NM_052813.5(CARD9):c.627+9G>A rs531220860 0.00003
NM_052813.5(CARD9):c.694C>T (p.Leu232=) rs373198723 0.00003
NM_052813.5(CARD9):c.858C>T (p.Asp286=) rs745509934 0.00003
NM_052813.5(CARD9):c.1029C>T (p.Ile343=) rs966910034 0.00002
NM_052813.5(CARD9):c.1089G>A (p.Thr363=) rs1217807819 0.00002
NM_052813.5(CARD9):c.1167C>T (p.Gly389=) rs759838683 0.00002
NM_052813.5(CARD9):c.1176G>A (p.Ala392=) rs142533596 0.00002
NM_052813.5(CARD9):c.117C>T (p.Val39=) rs780268681 0.00002
NM_052813.5(CARD9):c.129T>C (p.Asp43=) rs757743370 0.00002
NM_052813.5(CARD9):c.1341C>T (p.Thr447=) rs774391206 0.00002
NM_052813.5(CARD9):c.1357+18G>A rs773448435 0.00002
NM_052813.5(CARD9):c.135G>A (p.Glu45=) rs939496261 0.00002
NM_052813.5(CARD9):c.1374G>C (p.Gly458=) rs550933016 0.00002
NM_052813.5(CARD9):c.1578G>A (p.Thr526=) rs765707859 0.00002
NM_052813.5(CARD9):c.1593C>T (p.Thr531=) rs754121945 0.00002
NM_052813.5(CARD9):c.185-4G>A rs536158625 0.00002
NM_052813.5(CARD9):c.628-15C>A rs375692399 0.00002
NM_052813.5(CARD9):c.786G>A (p.Gln262=) rs202143480 0.00002
NM_052813.5(CARD9):c.1059C>T (p.Val353=) rs371007197 0.00001
NM_052813.5(CARD9):c.1077+10C>T rs1285888649 0.00001
NM_052813.5(CARD9):c.1077+11G>A rs763912665 0.00001
NM_052813.5(CARD9):c.1077+20G>A rs558323305 0.00001
NM_052813.5(CARD9):c.1224C>T (p.Ala408=) rs745746683 0.00001
NM_052813.5(CARD9):c.1270-16T>C rs1833146228 0.00001
NM_052813.5(CARD9):c.1275C>T (p.Ser425=) rs776362712 0.00001
NM_052813.5(CARD9):c.1312-7T>C rs1564367175 0.00001
NM_052813.5(CARD9):c.1335G>A (p.Glu445=) rs1400378173 0.00001
NM_052813.5(CARD9):c.1353C>T (p.Asp451=) rs375345378 0.00001
NM_052813.5(CARD9):c.1357+13C>T rs372095913 0.00001
NM_052813.5(CARD9):c.1377G>A (p.Gly459=) rs759571184 0.00001
NM_052813.5(CARD9):c.1389G>A (p.Gln463=) rs770178187 0.00001
NM_052813.5(CARD9):c.1395T>C (p.Phe465=) rs776273002 0.00001
NM_052813.5(CARD9):c.1410G>A (p.Gln470=) rs199617524 0.00001
NM_052813.5(CARD9):c.1434+10C>A rs751739563 0.00001
NM_052813.5(CARD9):c.1434+14G>A rs968537290 0.00001
NM_052813.5(CARD9):c.1435-20G>A rs570529040 0.00001
NM_052813.5(CARD9):c.1435-6C>T rs1436505855 0.00001
NM_052813.5(CARD9):c.1500G>A (p.Glu500=) rs1430111733 0.00001
NM_052813.5(CARD9):c.1511+19G>A rs1016041460 0.00001
NM_052813.5(CARD9):c.1512-18A>G rs1833064645 0.00001
NM_052813.5(CARD9):c.1512-20T>C rs1212621634 0.00001
NM_052813.5(CARD9):c.1512-9T>C rs1201296952 0.00001
NM_052813.5(CARD9):c.156C>A (p.Pro52=) rs926803855 0.00001
NM_052813.5(CARD9):c.184+14C>T rs1446416155 0.00001
NM_052813.5(CARD9):c.184+17G>A rs369940203 0.00001
NM_052813.5(CARD9):c.185-5C>T rs760533705 0.00001
NM_052813.5(CARD9):c.185-7C>T rs1304126992 0.00001
NM_052813.5(CARD9):c.18C>T (p.Asn6=) rs758482293 0.00001
NM_052813.5(CARD9):c.216C>T (p.Gly72=) rs372360475 0.00001
NM_052813.5(CARD9):c.240C>T (p.Leu80=) rs778088966 0.00001
NM_052813.5(CARD9):c.246C>T (p.Ser82=) rs1355957358 0.00001
NM_052813.5(CARD9):c.303C>T (p.Arg101=) rs773595074 0.00001
NM_052813.5(CARD9):c.322+11G>A rs1436380227 0.00001
NM_052813.5(CARD9):c.322+15A>T rs1588725777 0.00001
NM_052813.5(CARD9):c.352C>T (p.Leu118=) rs769292662 0.00001
NM_052813.5(CARD9):c.363T>C (p.Thr121=) rs745377757 0.00001
NM_052813.5(CARD9):c.36C>T (p.Ser12=) rs112268470 0.00001
NM_052813.5(CARD9):c.384G>A (p.Lys128=) rs777535858 0.00001
NM_052813.5(CARD9):c.432C>T (p.Ile144=) rs1274150394 0.00001
NM_052813.5(CARD9):c.459G>A (p.Leu153=) rs1833255723 0.00001
NM_052813.5(CARD9):c.489G>A (p.Arg163=) rs749290461 0.00001
NM_052813.5(CARD9):c.519C>T (p.Arg173=) rs146808845 0.00001
NM_052813.5(CARD9):c.525C>T (p.Leu175=) rs768564945 0.00001
NM_052813.5(CARD9):c.549C>T (p.Tyr183=) rs528585158 0.00001
NM_052813.5(CARD9):c.570G>A (p.Ala190=) rs760128484 0.00001
NM_052813.5(CARD9):c.594C>T (p.Ala198=) rs1348702255 0.00001
NM_052813.5(CARD9):c.627+8C>T rs769775448 0.00001
NM_052813.5(CARD9):c.628-10C>G rs770028236 0.00001
NM_052813.5(CARD9):c.636G>A (p.Gln212=) rs759411705 0.00001
NM_052813.5(CARD9):c.6G>A (p.Ser2=) rs975975788 0.00001
NM_052813.5(CARD9):c.748C>T (p.Leu250=) rs1484042011 0.00001
NM_052813.5(CARD9):c.75C>T (p.Ile25=) rs139436668 0.00001
NM_052813.5(CARD9):c.807+8C>T rs372934669 0.00001
NM_052813.5(CARD9):c.819G>A (p.Leu273=) rs1325602887 0.00001
NM_052813.5(CARD9):c.837C>T (p.Tyr279=) rs1355148152 0.00001
NM_052813.5(CARD9):c.855G>A (p.Glu285=) rs769415504 0.00001
NM_052813.5(CARD9):c.867G>A (p.Gln289=) rs1833233271 0.00001
NM_052813.5(CARD9):c.894C>G (p.Ala298=) rs757648134 0.00001
NM_052813.5(CARD9):c.897C>T (p.Asn299=) rs887110867 0.00001
NM_052813.5(CARD9):c.969G>A (p.Glu323=) rs374601657 0.00001
NM_052813.5(CARD9):c.979C>T (p.Leu327=) rs555805929 0.00001
NM_052813.5(CARD9):c.1077+15G>T rs762851077
NM_052813.5(CARD9):c.1077+17G>T rs2538665610
NM_052813.5(CARD9):c.1077+20G>C rs558323305
NM_052813.5(CARD9):c.1078-7C>G
NM_052813.5(CARD9):c.1080C>A (p.Ala360=)
NM_052813.5(CARD9):c.1090C>A (p.Arg364=) rs151211588
NM_052813.5(CARD9):c.1104C>T (p.His368=) rs145052557
NM_052813.5(CARD9):c.1113C>T (p.His371=)
NM_052813.5(CARD9):c.1149G>A (p.Lys383=) rs1455610083
NM_052813.5(CARD9):c.1153G>T (p.Val385Leu) rs3124993
NM_052813.5(CARD9):c.1167C>G (p.Gly389=) rs759838683
NM_052813.5(CARD9):c.1173G>A (p.Lys391=) rs1833158683
NM_052813.5(CARD9):c.1224C>A (p.Ala408=) rs745746683
NM_052813.5(CARD9):c.1227G>A (p.Val409=) rs576925149
NM_052813.5(CARD9):c.1257G>A (p.Glu419=) rs1291912498
NM_052813.5(CARD9):c.1263C>G (p.Leu421=) rs559114246
NM_052813.5(CARD9):c.1269+10G>C rs2538660851
NM_052813.5(CARD9):c.1269+17C>T rs371771167
NM_052813.5(CARD9):c.1269+19G>A rs2538660809
NM_052813.5(CARD9):c.1269+7C>T
NM_052813.5(CARD9):c.1269+8T>G rs1162277241
NM_052813.5(CARD9):c.1270-10A>G rs1354583482
NM_052813.5(CARD9):c.1270-5C>T rs764782476
NM_052813.5(CARD9):c.1278C>T (p.Asp426=) rs772921675
NM_052813.5(CARD9):c.1281G>C (p.Leu427=) rs2538659851
NM_052813.5(CARD9):c.1287T>C (p.Asp429=) rs2538659834
NM_052813.5(CARD9):c.1311+20G>A rs2538659698
NM_052813.5(CARD9):c.1312-13C>T rs2538658766
NM_052813.5(CARD9):c.1312-13CT[2] rs770532797
NM_052813.5(CARD9):c.1312-20A>C
NM_052813.5(CARD9):c.1358-5dup rs1833094187
NM_052813.5(CARD9):c.1359C>A (p.Gly453=) rs1489024588
NM_052813.5(CARD9):c.1373G>C (p.Gly458Ala) rs144348041
NM_052813.5(CARD9):c.1404G>A (p.Leu468=) rs1274807379
NM_052813.5(CARD9):c.1434+13C>T rs764189894
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_052813.5(CARD9):c.1435-27_1435-20del rs2131431383
NM_052813.5(CARD9):c.1446G>A (p.Leu482=)
NM_052813.5(CARD9):c.1446G>C (p.Leu482=) rs1833070000
NM_052813.5(CARD9):c.1452C>T (p.Ser484=) rs758540382
NM_052813.5(CARD9):c.1464C>A (p.Pro488=) rs765637340
NM_052813.5(CARD9):c.1464C>G (p.Pro488=) rs765637340
NM_052813.5(CARD9):c.1474C>A (p.Arg492=) rs1339311526
NM_052813.5(CARD9):c.150C>T (p.Ser50=) rs149255047
NM_052813.5(CARD9):c.1511+13C>T
NM_052813.5(CARD9):c.1511+7G>A rs1437596331
NM_052813.5(CARD9):c.1512-12C>T
NM_052813.5(CARD9):c.1512-15C>T
NM_052813.5(CARD9):c.1530G>A (p.Lys510=) rs900948789
NM_052813.5(CARD9):c.1536G>A (p.Gln512=) rs761020680
NM_052813.5(CARD9):c.1566G>A (p.Arg522=)
NM_052813.5(CARD9):c.15G>A (p.Glu5=) rs1462985722
NM_052813.5(CARD9):c.1605C>T (p.Gly535=) rs768039619
NM_052813.5(CARD9):c.184+15dup rs1833284343
NM_052813.5(CARD9):c.184+18G>A rs113897973
NM_052813.5(CARD9):c.185-11C>G
NM_052813.5(CARD9):c.185-11C>T rs1833271868
NM_052813.5(CARD9):c.185-16C>T rs753610539
NM_052813.5(CARD9):c.198C>T (p.Asp66=) rs1217596220
NM_052813.5(CARD9):c.213C>T (p.Thr71=) rs568874711
NM_052813.5(CARD9):c.21T>C (p.Asp7=) rs1343429765
NM_052813.5(CARD9):c.234C>T (p.Ala78=) rs2538670361
NM_052813.5(CARD9):c.237C>T (p.Phe79=) rs1833270010
NM_052813.5(CARD9):c.303C>A (p.Arg101=) rs773595074
NM_052813.5(CARD9):c.322+17G>A
NM_052813.5(CARD9):c.322+18C>T
NM_052813.5(CARD9):c.322+20_322+37del rs1182137626
NM_052813.5(CARD9):c.323-11C>A
NM_052813.5(CARD9):c.323-13G>C rs777590946
NM_052813.5(CARD9):c.323-18C>T rs2131444449
NM_052813.5(CARD9):c.323-20G>A rs1416579851
NM_052813.5(CARD9):c.327G>A (p.Ala109=) rs139395199
NM_052813.5(CARD9):c.327G>T (p.Ala109=) rs139395199
NM_052813.5(CARD9):c.330C>G (p.Ser110=) rs375434244
NM_052813.5(CARD9):c.330C>T (p.Ser110=) rs375434244
NM_052813.5(CARD9):c.357G>A (p.Leu119=) rs2131444369
NM_052813.5(CARD9):c.35_36delinsAT (p.Ser12Asn)
NM_052813.5(CARD9):c.387G>A (p.Lys129=)
NM_052813.5(CARD9):c.402C>G (p.Thr134=)
NM_052813.5(CARD9):c.405G>A (p.Ala135=) rs1450027448
NM_052813.5(CARD9):c.438G>A (p.Glu146=) rs2131444236
NM_052813.5(CARD9):c.468G>A (p.Lys156=) rs772862677
NM_052813.5(CARD9):c.471C>T (p.His157=) rs1231407607
NM_052813.5(CARD9):c.495G>A (p.Lys165=) rs2131444127
NM_052813.5(CARD9):c.501G>A (p.Glu167=)
NM_052813.5(CARD9):c.540G>A (p.Glu180=) rs1191358572
NM_052813.5(CARD9):c.54G>A (p.Arg18=) rs761273064
NM_052813.5(CARD9):c.54G>C (p.Arg18=) rs761273064
NM_052813.5(CARD9):c.567G>C (p.Leu189=) rs1588725297
NM_052813.5(CARD9):c.591C>G (p.Gly197=) rs774424748
NM_052813.5(CARD9):c.591C>T (p.Gly197=) rs774424748
NM_052813.5(CARD9):c.621G>A (p.Gln207=) rs1833249110
NM_052813.5(CARD9):c.627+11T>C rs1833248599
NM_052813.5(CARD9):c.627+13C>G rs372553152
NM_052813.5(CARD9):c.627+13C>T
NM_052813.5(CARD9):c.627+17C>A rs190628465
NM_052813.5(CARD9):c.627+19G>A rs1564369425
NM_052813.5(CARD9):c.642G>A (p.Lys214=) rs1833243565
NM_052813.5(CARD9):c.660C>G (p.Ala220=) rs372964807
NM_052813.5(CARD9):c.681G>A (p.Glu227=) rs1564369282
NM_052813.5(CARD9):c.750G>A (p.Leu250=)
NM_052813.5(CARD9):c.774G>A (p.Gln258=) rs2538668025
NM_052813.5(CARD9):c.807+10T>C
NM_052813.5(CARD9):c.807+10T>G rs775012731
NM_052813.5(CARD9):c.807+12G>A rs74954029
NM_052813.5(CARD9):c.808-10C>T
NM_052813.5(CARD9):c.816G>A (p.Lys272=) rs968702841
NM_052813.5(CARD9):c.852G>A (p.Glu284=)
NM_052813.5(CARD9):c.871C>T (p.Leu291=) rs1204500437
NM_052813.5(CARD9):c.876G>A (p.Arg292=) rs1394164631
NM_052813.5(CARD9):c.918G>A (p.Lys306=) rs1158158279
NM_052813.5(CARD9):c.951+10_951+17del rs147386417
NM_052813.5(CARD9):c.951+15G>A rs555867171
NM_052813.5(CARD9):c.951+15G>C rs555867171
NM_052813.5(CARD9):c.951+15G>T
NM_052813.5(CARD9):c.951+20G>A rs569579324
NM_052813.5(CARD9):c.951+9_951+17delinsA rs2538667053
NM_052813.5(CARD9):c.952-7C>T
NM_052813.5(CARD9):c.96T>C (p.Pro32=) rs2131445611
NM_052813.5(CARD9):c.978G>A (p.Glu326=)

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