ClinVar Miner

List of variants reported as likely pathogenic for autoinflammatory syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (114):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_014639.4(SKIC3):c.1221+1G>C rs200085753
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_031229.4(RBCK1):c.582+1G>A rs1017046170

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