ClinVar Miner

List of variants studied for combined immunodeficiency due to STIM1 deficiency by New York Genome Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_001382567.1(STIM1):c.386-11734G>A rs1278421182 0.00001
NM_001382567.1(STIM1):c.385+10749C>T rs763147075
NM_001382567.1(STIM1):c.386-7164T>A rs2094210478

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