ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_021803.4(IL21):c.146T>C (p.Leu49Pro) rs587777338 0.00003
NC_000004.10:g.152111739_152222852del
NM_001006658.3(CR2):c.1225+1G>C rs398122864
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001322934.2(NFKB2):c.2556_2563del (p.Arg853fs) rs727502786
NM_001322934.2(NFKB2):c.2557C>T (p.Arg853Ter) rs397514332
NM_001322934.2(NFKB2):c.2564del (p.Lys855fs) rs397514331
NM_001322934.2(NFKB2):c.2594A>G (p.Asp865Gly) rs727502787
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001322934.2(NFKB2):c.2611C>T (p.Gln871Ter) rs2061279365
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter) rs199469664
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter) rs727503780
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter) rs199469662
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs) rs727503779
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser) rs199469663
NM_001770.5(CD19):c.1653_*9delins23
NM_001770.6(CD19):c.1386_1387del (p.Asn463fs) rs1393707607
NM_001770.6(CD19):c.1464del (p.Ser489fs) rs886037921
NM_001770.6(CD19):c.156G>C (p.Trp52Cys) rs886037920
NM_001770.6(CD19):c.947-1G>T rs1567506566
NM_001770.6(CD19):c.971dup (p.Arg325fs) rs2152230798
NM_003998.4(NFKB1):c.1012del (p.Ser338fs) rs2149192665
NM_003998.4(NFKB1):c.139del (p.Ile47fs) rs2149123423
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs) rs1578811073
NM_003998.4(NFKB1):c.169C>T (p.Arg57Cys) rs1040399901
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) rs1578771120
NM_003998.4(NFKB1):c.465dup (p.Ala156fs) rs869320754
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter) rs2149181831
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.835+2T>G rs869320689
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_004356.4(CD81):c.561+1G>A rs587776775
NM_006060.5(IKZF1):c.161-8388_589+2308del
NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln) rs770551610
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu) rs770551610
NM_006060.6(IKZF1):c.500A>G (p.His167Arg) rs869312884
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln) rs869312885
NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) rs869312883
NM_012092.4(ICOS):c.59-594_501+93del
NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter) rs121908379
NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter) rs104894650
NM_013336.4(SEC61A1):c.1141G>T (p.Glu381Ter)
NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp) rs1553721236
NM_052945.4(TNFRSF13C):c.265_288del (p.Leu89_Val96del)
NM_152866.3(MS4A1):c.336+6_336+7delinsGACATATGGTT
NM_182972.3(IRF2BP2):c.1652G>A (p.Ser551Asn) rs1553319504

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