ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_022168.4(IFIH1):c.2384G>A (p.Gly795Asp)
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604

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