ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563 0.00003
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr) rs748895438
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794

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