ClinVar Miner

List of variants reported as likely benign for agammaglobulinemia by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_001039933.3(CD79B):c.384C>T (p.Asn128=) rs1555598971
NM_001039933.3(CD79B):c.68-6A>G rs374896622
NM_001322934.2(NFKB2):c.216G>A (p.Lys72=) rs369551276
NM_001322934.2(NFKB2):c.2286C>T (p.Ser762=) rs899733509
NM_001322934.2(NFKB2):c.396-5C>T rs373971415
NM_001364905.1(LRBA):c.2064T>C (p.His688=) rs145198687
NM_001364905.1(LRBA):c.4323G>A (p.Arg1441=) rs145003932
NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=) rs775567440
NM_001364905.1(LRBA):c.5460T>G (p.Pro1820=) rs565770808
NM_001364905.1(LRBA):c.6978T>C (p.Asp2326=) rs1172980980
NM_001364905.1(LRBA):c.7569C>T (p.Pro2523=) rs1372828165
NM_001364905.1(LRBA):c.7878T>C (p.His2626=) rs946590569
NM_001783.3(CD79A):c.21C>T (p.Val7=) rs782746615
NM_001783.3(CD79A):c.534C>T (p.Ala178=) rs367608135
NM_003809.3(TNFSF12):c.498+9del rs1356188583
NM_005026.5(PIK3CD):c.2838G>A (p.Lys946=) rs1553171834
NM_005026.5(PIK3CD):c.371-4G>A rs775036315
NM_012092.3(ICOS):c.186C>T (p.Leu62=) rs1553499319
NM_012092.3(ICOS):c.531C>T (p.Asn177=) rs370645286
NM_012452.2(TNFRSF13B):c.165C>T (p.Asn55=) rs756655390
NM_013314.3(BLNK):c.321G>A (p.Pro107=) rs782386441
NM_013314.3(BLNK):c.648G>A (p.Thr216=) rs782356586
NM_013314.3(BLNK):c.780A>G (p.Pro260=) rs1554897574
NM_052945.3(TNFRSF13C):c.132A>G (p.Lys44=) rs920471641
NM_052945.3(TNFRSF13C):c.367+10G>T rs1052448266
NM_181523.3(PIK3R1):c.1300-10A>C rs377666209
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=) rs754454562

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