ClinVar Miner

List of variants reported as benign for Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002187.3(IL12B):c.*1095C>A rs1368439 0.87183
NM_002187.3(IL12B):c.*159A>C rs3212227 0.25010
NM_002187.3(IL12B):c.*1G>A rs3213120 0.02185
NM_002187.3(IL12B):c.892G>T (p.Val298Phe) rs3213119 0.02183
NM_002187.3(IL12B):c.483-8G>C rs3213099 0.01764
NM_002187.3(IL12B):c.*225A>C rs3213113 0.01366
NM_002187.3(IL12B):c.*883C>A rs56409614 0.01304
NM_002187.3(IL12B):c.97G>A (p.Val33Ile) rs3213096 0.00441
NM_002187.3(IL12B):c.669C>T (p.Tyr223=) rs149027358 0.00118
NM_002187.3(IL12B):c.677G>A (p.Ser226Asn) rs55661460 0.00074
NM_002187.3(IL12B):c.863G>C (p.Arg288Thr) rs370904274 0.00001

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