ClinVar Miner

List of variants in gene CD19 studied for common variable immunodeficiency

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001770.6(CD19):c.520C>G (p.Leu174Val) rs2904880 0.76211
NM_001770.6(CD19):c.1541G>A (p.Arg514His) rs34763945 0.04099
NM_001770.6(CD19):c.1486+18T>A rs150575329 0.01255
NM_001770.6(CD19):c.381G>A (p.Ser127=) rs142342927 0.00523
NM_001770.6(CD19):c.1311C>T (p.Ser437=) rs148047850 0.00301
NM_001770.6(CD19):c.1580-4C>A rs148808609 0.00128
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe) rs142818579 0.00099
NM_001770.6(CD19):c.395T>G (p.Leu132Arg) rs146795664 0.00093
NM_001770.6(CD19):c.147G>A (p.Gln49=) rs140445039 0.00084
NM_001770.6(CD19):c.836-13C>G rs371868433 0.00069
NM_001770.6(CD19):c.406C>T (p.Leu136=) rs117769220 0.00048
NM_001770.6(CD19):c.*37A>G rs756122612 0.00040
NM_001770.6(CD19):c.*100T>C rs766679967 0.00035
NM_001770.6(CD19):c.527C>T (p.Pro176Leu) rs148200569 0.00033
NM_001770.6(CD19):c.-16G>A rs201081926 0.00019
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_001770.6(CD19):c.171G>A (p.Pro57=) rs199665700 0.00010
NM_001770.6(CD19):c.*180C>T rs886051890 0.00009
NM_001770.6(CD19):c.988A>G (p.Thr330Ala) rs373066835 0.00009
NM_001770.6(CD19):c.323A>C (p.Gln108Pro) rs776903049 0.00008
NM_001770.6(CD19):c.1035G>C (p.Gln345His) rs533120247 0.00006
NM_001770.6(CD19):c.*151G>A rs879933623 0.00005
NM_001770.6(CD19):c.*204A>G rs910119387 0.00004
NM_001770.6(CD19):c.1371C>T (p.Asn457=) rs199570434 0.00004
NM_001770.6(CD19):c.846C>A (p.His282Gln) rs756204094 0.00004
NM_001770.6(CD19):c.1469G>A (p.Arg490Gln) rs146223289 0.00003
NM_001770.6(CD19):c.1635del (p.Gly546fs) rs774006181 0.00003
NM_001770.6(CD19):c.384C>T (p.Asp128=) rs200748731 0.00003
NM_001770.6(CD19):c.835+3A>G rs374608144 0.00003
NM_001770.6(CD19):c.*65A>G rs547923710 0.00002
NM_001770.6(CD19):c.788G>A (p.Arg263His) rs146126284 0.00002
NM_001770.6(CD19):c.1204G>A (p.Glu402Lys) rs886051887 0.00001
NM_001770.6(CD19):c.228G>T (p.Arg76Ser) rs999692059 0.00001
NM_001770.6(CD19):c.47T>C (p.Met16Thr) rs745681190 0.00001
NM_001770.6(CD19):c.488G>A (p.Arg163His) rs772346128 0.00001
NM_001770.6(CD19):c.687G>C (p.Glu229Asp) rs773781983 0.00001
NM_001770.5(CD19):c.1653_*9delins23
NM_001770.6(CD19):c.*11G>A rs535901247
NM_001770.6(CD19):c.*71C>T rs886051888
NM_001770.6(CD19):c.1042T>C (p.Tyr348His) rs1596717340
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_001770.6(CD19):c.1386_1387del (p.Asn463fs) rs1393707607
NM_001770.6(CD19):c.1464del (p.Ser489fs) rs886037921
NM_001770.6(CD19):c.1487-11C>G rs769960273
NM_001770.6(CD19):c.156G>C (p.Trp52Cys) rs886037920
NM_001770.6(CD19):c.1580-14C>T rs376505803
NM_001770.6(CD19):c.178C>T (p.Pro60Ser) rs1010611591
NM_001770.6(CD19):c.17T>G (p.Leu6Arg) rs886051886
NM_001770.6(CD19):c.246T>C (p.Leu82=) rs1964665391
NM_001770.6(CD19):c.24C>A (p.Phe8Leu)
NM_001770.6(CD19):c.530G>C (p.Arg177Thr) rs1567504893
NM_001770.6(CD19):c.61G>C (p.Glu21Gln) rs771929657
NM_001770.6(CD19):c.705G>T (p.Pro235=) rs35979293
NM_001770.6(CD19):c.854T>C (p.Leu285Pro) rs764208673
NM_001770.6(CD19):c.947-1G>T rs1567506566
NM_001770.6(CD19):c.971dup (p.Arg325fs) rs2152230798

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