ClinVar Miner

List of variants reported as benign for combined immunodeficiency due to STIM1 deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.1474+17C>G rs2289570 0.89391
NM_001382567.1(STIM1):c.1138-25T>C rs10767828 0.67780
NM_001382567.1(STIM1):c.271-3034G>C rs2923950 0.51498
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=) rs2304891 0.43325
NM_001382567.1(STIM1):c.1138-9T>C rs58461583 0.05004
NM_001382567.1(STIM1):c.385+12C>T rs114583092 0.04548
NM_001382567.1(STIM1):c.1705C>T (p.Pro569Ser) rs35960304 0.01918
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_001382567.1(STIM1):c.861C>T (p.Arg287=) rs16929446 0.00556
NM_001382567.1(STIM1):c.1239-13C>T rs115353673 0.00426
NM_001382567.1(STIM1):c.1302G>A (p.Glu434=) rs116837894 0.00426
NM_001382567.1(STIM1):c.1931C>A (p.Ser644Tyr) rs35637264 0.00323
NM_001382567.1(STIM1):c.1604C>T (p.Thr535Met) rs146873551 0.00267
NM_001382567.1(STIM1):c.1896C>G (p.Pro632=) rs61743670 0.00212
NM_001382567.1(STIM1):c.507C>T (p.Val169=) rs140488516 0.00178
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.234T>C (p.Asp78=) rs146126071 0.00081
NM_001382567.1(STIM1):c.1170C>G (p.Leu390=) rs143609147 0.00080
NM_001382567.1(STIM1):c.201A>G (p.Ala67=) rs200194500 0.00015
NM_001382567.1(STIM1):c.597C>A (p.Leu199=) rs189905382 0.00015
NM_001382567.1(STIM1):c.1700A>G (p.Lys567Arg) rs140122024 0.00006
NM_001382567.1(STIM1):c.1611A>G (p.Pro537=) rs199512211 0.00003
NM_001382567.1(STIM1):c.111G>A (p.Gly37=) rs201909794 0.00001
NM_001382567.1(STIM1):c.1305C>T (p.Ile435=) rs199801171 0.00001
NM_001382567.1(STIM1):c.1712T>C (p.Met571Thr) rs1390592487 0.00001
NM_001382567.1(STIM1):c.1138-15del rs761654472
NM_001382567.1(STIM1):c.1712T>G (p.Met571Arg)
NM_001382567.1(STIM1):c.1714A>G (p.Ser572Gly)
NM_001382567.1(STIM1):c.1715G>A (p.Ser572Asn)

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