ClinVar Miner

List of variants reported as pathogenic for common variable immunodeficiency by Invitae

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_012452.3(TNFRSF13B):c.311G>A (p.Cys104Tyr) rs72553879 0.00016
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) rs72553882 0.00006
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter) rs185689791 0.00004
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter) rs144718007 0.00004
NM_012452.3(TNFRSF13B):c.579C>A (p.Cys193Ter) rs72553885 0.00004
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001364905.1(LRBA):c.1897C>T (p.Arg633Ter) rs770266168 0.00003
NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter) rs772481080 0.00002
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter) rs201017642 0.00002
NM_012452.3(TNFRSF13B):c.62-1G>A rs759649059 0.00002
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter) rs1334688271 0.00001
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter) rs1030733127 0.00001
NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter) rs760342862 0.00001
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter) rs1206185362 0.00001
NM_001364905.1(LRBA):c.7009C>T (p.Arg2337Ter) rs1268711491 0.00001
NM_001364905.1(LRBA):c.7381C>T (p.Arg2461Ter) rs1004337827 0.00001
NM_012452.3(TNFRSF13B):c.298dup (p.Cys100fs) rs72553878 0.00001
NM_012452.3(TNFRSF13B):c.497del (p.Thr166fs) rs2087501902 0.00001
NM_012452.3(TNFRSF13B):c.552C>A (p.Cys184Ter) rs1286642936 0.00001
NM_012452.3(TNFRSF13B):c.61+2T>A rs760885614 0.00001
NM_012452.3(TNFRSF13B):c.62-2A>G rs1286673507 0.00001
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NC_000004.11:g.(?_151336570)_(151520303_?)del
NC_000004.11:g.(?_151504182)_(151656538_?)del
NC_000004.11:g.(?_151604683)_(151604889_?)del
NC_000004.11:g.(?_151814184)_(151814321_?)del
NC_000004.12:g.(?_150310209)_(150350179_?)del
NC_000004.12:g.(?_150415418)_(150817277_?)del
NC_000004.12:g.(?_150588028)_(150735386_?)del
NC_000004.12:g.(?_150683531)_(150761867_?)del
NC_000004.12:g.(?_150735238)_(150735386_?)del
NC_000004.12:g.(?_150761763)_(150761867_?)del
NC_000004.12:g.(?_150893032)_(150897838_?)del
NC_000017.10:g.(?_16875309)_(16875389_?)del
NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter)
NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)
NM_001006658.3(CR2):c.1191del (p.Thr398fs) rs1658223688
NM_001006658.3(CR2):c.1225+1G>C rs398122864
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter)
NM_001006658.3(CR2):c.1458del (p.Phe486fs)
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)
NM_001006658.3(CR2):c.1646del (p.Gly549fs) rs1658320297
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs) rs1558192723
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs)
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter) rs1331358695
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs) rs1658357615
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter)
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)
NM_001006658.3(CR2):c.2423del (p.Asp808fs)
NM_001006658.3(CR2):c.243del (p.Lys81fs) rs1572950925
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter) rs766671758
NM_001006658.3(CR2):c.2864_2865del (p.His955fs) rs2102308703
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter) rs369363360
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)
NM_001006658.3(CR2):c.40dup (p.Val14fs)
NM_001006658.3(CR2):c.412del (p.Trp138fs)
NM_001006658.3(CR2):c.592_595del (p.Ser199fs) rs868255776
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001006658.3(CR2):c.717del (p.Phe241fs) rs1468427986
NM_001006658.3(CR2):c.721_722del (p.Phe241fs) rs749636258
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2602_2605dup (p.Gly869fs) rs2135443636
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter) rs2061279365
NM_001364905.1(LRBA):c.1661_1662insGATA (p.Tyr554Ter)
NM_001364905.1(LRBA):c.1697del (p.Lys566fs) rs2127154885
NM_001364905.1(LRBA):c.1736G>A (p.Trp579Ter) rs2127154743
NM_001364905.1(LRBA):c.1931dup (p.Arg645fs) rs745453685
NM_001364905.1(LRBA):c.1933C>T (p.Arg645Ter)
NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter) rs199750191
NM_001364905.1(LRBA):c.205_206del (p.Val69fs) rs1745202896
NM_001364905.1(LRBA):c.2204_2205dup (p.Arg736fs)
NM_001364905.1(LRBA):c.2240T>A (p.Leu747Ter)
NM_001364905.1(LRBA):c.2449C>T (p.Gln817Ter)
NM_001364905.1(LRBA):c.2559_2560del (p.Ser853fs)
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter) rs1560938296
NM_001364905.1(LRBA):c.2614del (p.Ser872fs) rs2126988253
NM_001364905.1(LRBA):c.2625T>A (p.Tyr875Ter)
NM_001364905.1(LRBA):c.2717G>A (p.Trp906Ter)
NM_001364905.1(LRBA):c.2722_2738del (p.Gly908fs)
NM_001364905.1(LRBA):c.2736G>A (p.Trp912Ter)
NM_001364905.1(LRBA):c.2836_2839del (p.Glu945_Glu946insTer) rs777413769
NM_001364905.1(LRBA):c.2963del (p.Asn988fs) rs1750760771
NM_001364905.1(LRBA):c.3048T>G (p.Tyr1016Ter)
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter) rs1578999313
NM_001364905.1(LRBA):c.3156del (p.Asp1053fs)
NM_001364905.1(LRBA):c.3286_3287del (p.Phe1096fs) rs1750723817
NM_001364905.1(LRBA):c.3461_3464del (p.Leu1154fs)
NM_001364905.1(LRBA):c.3487_3488del (p.Val1162_Thr1163insTer) rs1750701604
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter) rs1560914625
NM_001364905.1(LRBA):c.3830C>G (p.Ser1277Ter) rs1319094744
NM_001364905.1(LRBA):c.3989_3990dup (p.Gln1331fs)
NM_001364905.1(LRBA):c.448+1G>T rs1032290659
NM_001364905.1(LRBA):c.4750dup (p.Ser1584fs)
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter) rs1484948342
NM_001364905.1(LRBA):c.488del (p.Asn163fs) rs2149508349
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer) rs1554020278
NM_001364905.1(LRBA):c.5024del (p.Asn1675fs)
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.5060_5067del (p.Asn1687fs) rs2126810852
NM_001364905.1(LRBA):c.5125_5152dup (p.Gln1718delinsArgTer) rs2126810458
NM_001364905.1(LRBA):c.5231dup (p.Pro1745fs)
NM_001364905.1(LRBA):c.5254del (p.Val1752fs)
NM_001364905.1(LRBA):c.5586G>A (p.Trp1862Ter)
NM_001364905.1(LRBA):c.5903G>A (p.Trp1968Ter)
NM_001364905.1(LRBA):c.6234_6238delinsTTTT (p.Ser2079fs) rs1772348297
NM_001364905.1(LRBA):c.6235del (p.Ser2079fs) rs1051619342
NM_001364905.1(LRBA):c.6269_6270delinsAA (p.Ser2090Ter) rs2126438478
NM_001364905.1(LRBA):c.6319del (p.Ile2107fs) rs34237929
NM_001364905.1(LRBA):c.6551+1del rs1320366310
NM_001364905.1(LRBA):c.6909G>A (p.Trp2303Ter) rs2151995373
NM_001364905.1(LRBA):c.6979C>T (p.Arg2327Ter)
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter) rs1581303476
NM_001364905.1(LRBA):c.7282C>T (p.Arg2428Ter)
NM_001364905.1(LRBA):c.7405C>T (p.Gln2469Ter)
NM_001364905.1(LRBA):c.7928del (p.Asn2643fs) rs2126848251
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001364905.1(LRBA):c.8205dup (p.Gln2736fs)
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter) rs1580875488
NM_001364905.1(LRBA):c.893del (p.Lys298fs) rs2149489346
NM_001364905.1(LRBA):c.928C>T (p.Arg310Ter)
NM_012092.4(ICOS):c.17G>A (p.Trp6Ter)
NM_012092.4(ICOS):c.181del (p.Ile61fs) rs1690066397
NM_012092.4(ICOS):c.189C>A (p.Cys63Ter) rs537195517
NM_012092.4(ICOS):c.291C>A (p.Tyr97Ter)
NM_012092.4(ICOS):c.294del (p.Leu99fs)
NM_012092.4(ICOS):c.318T>G (p.Tyr106Ter) rs2105754294
NM_012092.4(ICOS):c.357del (p.Phe119fs)
NM_012092.4(ICOS):c.61G>T (p.Glu21Ter) rs1015881666
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.3(TNFRSF13B):c.227_231del (p.Gly76fs) rs1265262160
NM_012452.3(TNFRSF13B):c.25C>T (p.Arg9Ter) rs1383649750
NM_012452.3(TNFRSF13B):c.306C>A (p.Tyr102Ter)
NM_012452.3(TNFRSF13B):c.350_356del (p.Glu117fs) rs1293048695
NM_012452.3(TNFRSF13B):c.355del (p.Arg119fs)
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
NM_012452.3(TNFRSF13B):c.431C>G (p.Ser144Ter) rs104894650
NM_012452.3(TNFRSF13B):c.49del (p.Gln17fs) rs1555550717
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312
NM_012452.3(TNFRSF13B):c.61+1G>T rs1016142312
NM_012452.3(TNFRSF13B):c.61+2T>C rs760885614
NM_012452.3(TNFRSF13B):c.91_92del (p.Met31fs)
NM_012452.3(TNFRSF13B):c.95_96dup (p.Ser33fs) rs1303637368

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