ClinVar Miner

List of variants reported as pathogenic for immunodeficiency 32B by OMIM

Included ClinVar conditions (2):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002163.4(IRF8):c.602C>T (p.Ala201Val)	rs144424711	0.00301
NM_002163.4(IRF8):c.671C>T (p.Pro224Leu)	rs774835569	0.00008
NM_002163.4(IRF8):c.322A>G (p.Lys108Glu)	rs397514710

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