ClinVar Miner

List of variants reported as benign for Hyper-IgM syndrome type 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001250.6(CD40):c.371C>T (p.Ser124Leu) rs11569321 0.04146
NM_001250.6(CD40):c.606C>T (p.Phe202=) rs7273698 0.04009
NM_001250.6(CD40):c.403+20A>G rs11699100 0.02132
NM_001250.6(CD40):c.679C>G (p.Pro227Ala) rs11086998 0.01507
NM_001250.6(CD40):c.559+36G>C rs41282788 0.01183
NM_001250.6(CD40):c.646+27G>T rs11569337 0.00975

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