List of variants in gene STIM1 reported as likely pathogenic for Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000011.9:g.(?_4045083)_(4045237_?)dup
NM_001382567.1(STIM1):c.1568-1G>T
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)	rs748277951
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)	rs2135736648
NM_001382567.1(STIM1):c.270+2T>C
NM_001382567.1(STIM1):c.386-1G>A	rs2133083597
NM_001382567.1(STIM1):c.792-1G>A

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