ClinVar Miner

List of variants studied for immune system disorder by Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

Included ClinVar conditions (908):
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.373C>G (p.Leu125Val) rs139219083
NM_022168.4(IFIH1):c.960G>C (p.Leu320Phe)

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