ClinVar Miner

List of variants reported as likely pathogenic for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000061.2(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.2(BTK):c.121G>A (p.Glu41Lys) rs1057520045
NM_000061.2(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.2(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.2(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.2(BTK):c.588+1G>T rs1569293252
NM_000061.2(BTK):c.588+2T>A rs1555978777
NM_000061.2(BTK):c.777-2A>G rs193922129
NM_000061.2(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.2(BTK):c.840-1G>A rs193922131
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.2(BTK):c.895-2A>G rs193922132
NM_000061.2(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000061.3(BTK):c.36G>T (p.Lys12Asn)
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001322934.2(NFKB2):c.2571_2575CAGCA[1] (p.Thr859fs) rs1565214594
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)
NM_001364905.1(LRBA):c.5645+2T>A
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs) rs1561254290
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)
NM_001770.6(CD19):c.1198+2T>G
NM_003998.4(NFKB1):c.1752+1G>A rs1560711146
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter)
NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) rs1245618829
NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) rs778820674
NM_012092.3(ICOS):c.394+2T>C rs1559035937
NM_012092.3(ICOS):c.58+1G>A
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.311G>A (p.Cys104Tyr)
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_052945.3(TNFRSF13C):c.62C>G (p.Pro21Arg) rs77874543

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