ClinVar Miner

List of variants reported as benign for Immunodeficiency 39 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001572.5(IRF7):c.327G>A (p.Arg109=) rs1061501 0.84827
NM_001572.5(IRF7):c.535A>G (p.Lys179Glu) rs1061502 0.33801
NM_001572.5(IRF7):c.1235A>G (p.Gln412Arg) rs1131665 0.33779
NM_001572.5(IRF7):c.1237+14T>C rs12422022 0.33777
NM_001572.5(IRF7):c.184-3C>A rs12290989 0.33660
NM_001572.5(IRF7):c.486A>G (p.Thr162=) rs11246214 0.04817
NM_001572.5(IRF7):c.177C>T (p.Ile59=) rs113083699 0.04808
NM_001572.5(IRF7):c.660G>A (p.Leu220=) rs76107421 0.00414
NM_001572.5(IRF7):c.110G>A (p.Arg37His) rs146681075 0.00211
NM_001572.5(IRF7):c.84G>A (p.Glu28=) rs11544075 0.00113
NM_001572.5(IRF7):c.767-19G>A rs202203308 0.00101
NM_001572.5(IRF7):c.848-12G>C rs201648924 0.00086
NM_001572.5(IRF7):c.680-16G>C rs182170955 0.00081
NM_001572.5(IRF7):c.1357-18C>T rs200469975 0.00074
NM_001572.5(IRF7):c.453+5C>T rs371670587 0.00029
NM_001572.5(IRF7):c.767-14C>T rs543923618 0.00018
NM_001572.5(IRF7):c.680-18C>T rs56318336 0.00011
NM_001572.5(IRF7):c.504C>T (p.Ala168=) rs201641200 0.00006
NM_001572.5(IRF7):c.1146A>C (p.Gly382=) rs1061505
NM_001572.5(IRF7):c.183+11del rs774493349
NM_001572.5(IRF7):c.184-4T>A rs12272434
NM_001572.5(IRF7):c.184-4_184-3delinsAA rs386749598
NM_001572.5(IRF7):c.291C>T (p.Cys97=) rs757206310

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