List of variants in gene STIM1 studied for Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001382567.1(STIM1):c.1634+319G>A	rs118128831	0.00808
NM_001382567.1(STIM1):c.1634+269C>G	rs139558513	0.00229
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)	rs141215990	0.00163
NM_001382567.1(STIM1):c.1634+287G>A	rs562406813	0.00157
NM_001382567.1(STIM1):c.387A>G (p.Val129=)	rs116855870	0.00083
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr)	rs1444907403	0.00003
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe)	rs201767533	0.00001
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu)	rs1242032695	0.00001
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys)	rs753214223
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln)	rs771484089
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs)	rs1590688717

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