ClinVar Miner

List of variants studied for combined immunodeficiency due to STIM1 deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu) rs200907515 0.00001

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