ClinVar Miner

List of variants in gene SMARCA2 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.*230T>C rs966867044 0.00014
NM_003070.5(SMARCA2):c.*307C>T rs868705647 0.00012
NM_003070.5(SMARCA2):c.*765T>G rs901166717 0.00011
NM_003070.5(SMARCA2):c.*587T>C rs918541411 0.00007
NM_003070.5(SMARCA2):c.*80T>C rs370531788 0.00006
NM_003070.5(SMARCA2):c.876C>T (p.Pro292=) rs1046917367 0.00006
NM_003070.5(SMARCA2):c.3981+11C>G rs1231425120 0.00004
NM_003070.5(SMARCA2):c.4499A>C (p.Lys1500Thr) rs759970929 0.00004
NM_003070.5(SMARCA2):c.4737+12C>T rs769322005 0.00004
NM_003070.5(SMARCA2):c.*537T>C rs759183108 0.00003
NM_003070.5(SMARCA2):c.2037-4C>A rs772646899 0.00003
NM_003070.5(SMARCA2):c.324T>A (p.Pro108=) rs150630640 0.00003
NM_003070.5(SMARCA2):c.3165T>C (p.Leu1055=) rs369919125 0.00002
NM_003070.5(SMARCA2):c.*782G>A rs1056878965 0.00001
NM_003070.5(SMARCA2):c.1812G>A (p.Lys604=) rs1400253844 0.00001
NM_003070.5(SMARCA2):c.2070C>G (p.Ser690Arg) rs1298685112 0.00001
NM_003070.5(SMARCA2):c.2452C>T (p.Leu818=) rs886063776 0.00001
NM_003070.5(SMARCA2):c.2527-3T>C rs781267277 0.00001
NM_003070.5(SMARCA2):c.3768G>A (p.Met1256Ile) rs370403102 0.00001
NM_003070.5(SMARCA2):c.399C>T (p.His133=) rs907788066 0.00001
NM_003070.5(SMARCA2):c.4738-9T>C rs886063796 0.00001
NM_003070.5(SMARCA2):c.699G>A (p.Gln233=) rs1563724939 0.00001
NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln) rs1417006108 0.00001
NM_003070.5(SMARCA2):c.990C>T (p.Pro330=) rs1440645966 0.00001
NM_003070.5(SMARCA2):c.*101A>C rs749591740
NM_003070.5(SMARCA2):c.*16T>C rs768982865
NM_003070.5(SMARCA2):c.*192G>C rs768360622
NM_003070.5(SMARCA2):c.*197A>G rs886063798
NM_003070.5(SMARCA2):c.*204G>A rs1295221964
NM_003070.5(SMARCA2):c.*489A>G rs1828016602
NM_003070.5(SMARCA2):c.*5T>C rs886063797
NM_003070.5(SMARCA2):c.*670A>G rs1828028962
NM_003070.5(SMARCA2):c.*694T>G rs886063800
NM_003070.5(SMARCA2):c.*876G>C rs553367571
NM_003070.5(SMARCA2):c.105A>G (p.Pro35=) rs1039400951
NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=) rs145129640
NM_003070.5(SMARCA2):c.2290A>G (p.Thr764Ala)
NM_003070.5(SMARCA2):c.2933A>T (p.Tyr978Phe) rs78915420
NM_003070.5(SMARCA2):c.3216C>T (p.Phe1072=) rs770440833
NM_003070.5(SMARCA2):c.3633C>T (p.His1211=) rs1353802111
NM_003070.5(SMARCA2):c.4673C>G (p.Pro1558Arg) rs778494811
NM_003070.5(SMARCA2):c.4701G>A (p.Val1567=) rs886063795
NM_003070.5(SMARCA2):c.693G>A (p.Gln231=) rs149130789
NM_003070.5(SMARCA2):c.961C>T (p.Leu321=) rs770243967

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