ClinVar Miner

List of variants studied for Stormorken syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.387A>G (p.Val129=) rs116855870 0.00083
NM_001382567.1(STIM1):c.454G>A (p.Glu152Lys) rs143916878 0.00013
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

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