ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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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_001006658.3(CR2):c.1402+1G>A rs372838534 0.00006
NM_001006658.3(CR2):c.3088+1G>A rs200320927 0.00001
NM_001364905.1(LRBA):c.5645+2T>A rs1181595292 0.00001
NM_001364905.1(LRBA):c.5646-2A>T rs1297757024 0.00001
NC_000004.11:g.(?_151604683)_(151604889_?)dup
NC_000017.10:g.(?_16842841)_(16855917_?)del
NM_001006658.3(CR2):c.2240+1G>A
NM_001006658.3(CR2):c.2716+2T>C rs2102307813
NM_001006658.3(CR2):c.3089-1G>A rs1365226221
NM_001006658.3(CR2):c.3188+2del rs1658562210
NM_001322934.2(NFKB2):c.2576_2580del (p.Thr859fs) rs1565214594
NM_001322934.2(NFKB2):c.2595_2596del (p.Asp865fs) rs2061278560
NM_001364905.1(LRBA):c.1923_1924+11del rs755373718
NM_001364905.1(LRBA):c.1924+2T>A rs1730552437
NM_001364905.1(LRBA):c.216+1G>C
NM_001364905.1(LRBA):c.2166-1G>C rs2127009232
NM_001364905.1(LRBA):c.2259-2A>G rs2127004616
NM_001364905.1(LRBA):c.2449+1G>A
NM_001364905.1(LRBA):c.2767-2A>G rs1350061017
NM_001364905.1(LRBA):c.4159-1G>T rs1750245794
NM_001364905.1(LRBA):c.476_549+580del
NM_001364905.1(LRBA):c.5518+2T>C rs532289025
NM_001364905.1(LRBA):c.5519-1G>A rs1302362911
NM_001364905.1(LRBA):c.5755-1G>C
NM_001364905.1(LRBA):c.6194-2A>G
NM_001364905.1(LRBA):c.6551+1G>T
NM_001364905.1(LRBA):c.7363-1G>T
NM_012092.4(ICOS):c.394+2T>C rs1559035937
NM_012092.4(ICOS):c.58+1G>A rs757598952

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