List of variants reported as pathogenic for combined immunodeficiency due to STIM1 deficiency by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001382567.1(STIM1):c.1276C>T (p.Arg426Cys)	rs1057519505
NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys)	rs397514671
NM_001382567.1(STIM1):c.221T>C (p.Leu74Pro)	rs1057519506
NM_001382567.1(STIM1):c.381dup (p.Glu128fs)	rs397515357
NM_001382567.1(STIM1):c.970-1G>A	rs397515390

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