ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_022168.4(IFIH1):c.2472A>C (p.Arg824Ser)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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