ClinVar Miner

List of variants studied for immunodeficiency 39 by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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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.1357-43A>C rs10902178 0.33793
NM_001572.5(IRF7):c.1356+32T>C rs11246213 0.33786
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.1237+41C>G rs1051390 0.33752
NM_001572.5(IRF7):c.184-3C>A rs12290989 0.33660
NM_001572.5(IRF7):c.1146A>C (p.Gly382=) rs1061505
NM_001572.5(IRF7):c.184-4T>A rs12272434

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