ClinVar Miner

List of variants in gene STIM1 reported as pathogenic

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.(?_4059271)_(4059406_?)del
NC_000011.9:g.(?_3988762)_(4113028_?)del
NC_000011.9:g.(?_4076736)_(4076887_?)del
NM_001382567.1(STIM1):c.1189del (p.Ala397fs) rs2133224258
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.1452del (p.Ile484fs) rs1565171115
NM_001382567.1(STIM1):c.1453del (p.Val485fs)
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs) rs2135736277
NM_001382567.1(STIM1):c.221T>C (p.Leu74Pro) rs1057519506
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) rs748277951
NM_001382567.1(STIM1):c.251A>G (p.Asp84Gly) rs397514675
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly) rs2135736648
NM_001382567.1(STIM1):c.325C>A (p.His109Asn) rs397514676
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) rs527236030
NM_001382567.1(STIM1):c.381dup (p.Glu128fs) rs397515357
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs) rs1590688717
NM_001382567.1(STIM1):c.869_887del (p.Ile290fs) rs751733169
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp) rs483352867
NM_001382567.1(STIM1):c.970-1G>A rs397515390

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