ClinVar Miner

List of variants studied for Immunodeficiency 25 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_198053.3(CD247):c.208C>T (p.Gln70Ter) rs74315290
NM_198053.3(CD247):c.208_209inv (p.Gln70Trp)
NM_198053.3(CD247):c.208_210delinsTAT (p.Gln70Tyr) rs193922741
NM_198053.3(CD247):c.209A>T (p.Gln70Leu) rs193922740

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