ClinVar Miner

List of variants reported as benign for immunodeficiency 32B by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002163.4(IRF8):c.*354C>T rs10514611 0.22980
NM_002163.4(IRF8):c.432C>T (p.Asp144=) rs16939945 0.02839
NM_002163.4(IRF8):c.672C>T (p.Pro224=) rs57770209 0.01766
NM_002163.4(IRF8):c.387C>T (p.Cys129=) rs16939941 0.01390
NM_002163.4(IRF8):c.1236A>G (p.Ser412=) rs16940012 0.01272
NM_002163.4(IRF8):c.1275C>T (p.Thr425=) rs147057451 0.01269
NM_002163.4(IRF8):c.300A>G (p.Gln100=) rs11545564 0.01115
NM_002163.4(IRF8):c.1194G>A (p.Pro398=) rs2270503 0.00650
NM_002163.4(IRF8):c.894C>T (p.Phe298=) rs61995933 0.00547
NM_002163.4(IRF8):c.813C>T (p.Phe271=) rs147080359 0.00373
NM_002163.4(IRF8):c.602-19G>A rs185056029 0.00107
NM_002163.4(IRF8):c.1122C>T (p.Val374=) rs544583597 0.00028
NM_002163.4(IRF8):c.864C>T (p.Phe288=) rs372510203 0.00012
NM_002163.4(IRF8):c.1104+40del rs10604224
NM_002163.4(IRF8):c.414C>T (p.Cys138=) rs8052064
NM_002163.4(IRF8):c.495G>T (p.Pro165=) rs532341216
NM_002163.4(IRF8):c.573G>A (p.Gly191=) rs17444416

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