ClinVar Miner

List of variants in gene CD40 reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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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.646+27G>T
NM_001250.6(CD40):c.647-3dup rs749590513

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