ClinVar Miner

List of variants in gene CD40 studied for B cell deficiency

Included ClinVar conditions (64):
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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001250.6(CD40):c.606C>T (p.Phe202=) rs7273698 0.04254
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) rs11569321 0.04146
NM_001250.6(CD40):c.*135C>G rs11569343 0.03655
NM_001250.6(CD40):c.403+20A>G rs11699100 0.02132
NM_001250.6(CD40):c.*316G>C rs11569344 0.01767
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) rs11086998 0.01523
NM_001250.6(CD40):c.559+36G>C rs41282788 0.01183
NM_001250.6(CD40):c.52-15C>T rs187683423 0.00253
NM_001250.6(CD40):c.717C>T (p.Pro239=) rs144466131 0.00160
NM_001250.6(CD40):c.*547A>T rs184942163 0.00129
NM_001250.6(CD40):c.*178G>A rs565941222 0.00051
NM_001250.6(CD40):c.*372A>C rs117490488 0.00050
NM_001250.6(CD40):c.*677G>A rs370599881 0.00031
NM_001250.6(CD40):c.750A>G (p.Pro250=) rs376780996 0.00014
NM_001250.6(CD40):c.381C>T (p.Pro127=) rs763263083 0.00007
NM_001250.6(CD40):c.*310C>G rs886056720 0.00006
NM_001250.6(CD40):c.498-7T>C rs745435992 0.00006
NM_001250.6(CD40):c.*676C>T rs933970936 0.00005
NM_001250.6(CD40):c.622A>G (p.Ile208Val) rs199581355 0.00005
NM_001250.6(CD40):c.*119C>T rs746182207 0.00004
NM_001250.6(CD40):c.*216A>C rs886056719 0.00004
NM_001250.6(CD40):c.249C>T (p.Cys83=) rs776893342 0.00004
NM_001250.6(CD40):c.*338A>G rs886056721 0.00003
NM_001250.6(CD40):c.444C>T (p.Val148=) rs745496687 0.00003
NM_001250.6(CD40):c.621C>T (p.Ala207=) rs535886332 0.00002
NM_001250.6(CD40):c.*560C>T rs1185046356 0.00001
NM_001250.6(CD40):c.256+8C>T rs775430615 0.00001
NM_001250.6(CD40):c.*85G>T rs886056718
NM_001250.6(CD40):c.247T>C (p.Cys83Arg) rs28931586
NM_001250.6(CD40):c.256+2T>C rs774195387
NM_001250.6(CD40):c.257-2A>T rs1568906348
NM_001250.6(CD40):c.311C>T (p.Thr104Ile) rs1171596083
NM_001250.6(CD40):c.339T>C (p.Ser113=) rs886056717
NM_001250.6(CD40):c.379C>T (p.Pro127Ser) rs2085343720
NM_001250.6(CD40):c.397C>T (p.Gln133Ter) rs1460849632
NM_001250.6(CD40):c.408A>T (p.Thr136=) rs2145595063
NM_001250.6(CD40):c.646+27G>T
NM_001250.6(CD40):c.647-3dup rs749590513
NM_001250.6(CD40):c.647-4_647-3dup rs749590513
NM_001250.6(CD40):c.95TAA[1] (p.Ile33del) rs1568905451

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