ClinVar Miner

List of variants in gene combination NKX2-1, SFTA3 reported by Ambry Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.107A>C (p.Lys36Thr)
NM_001079668.3(NKX2-1):c.110A>C (p.His37Pro)
NM_001079668.3(NKX2-1):c.170_182del (p.Val57fs) rs1881225977
NM_001079668.3(NKX2-1):c.188G>T (p.Gly63Val)
NM_001079668.3(NKX2-1):c.244G>C (p.Ala82Pro)
NM_001079668.3(NKX2-1):c.249G>T (p.Met83Ile)
NM_001079668.3(NKX2-1):c.255G>C (p.Gln85His)
NM_001079668.3(NKX2-1):c.292T>G (p.Tyr98Asp)
NM_001079668.3(NKX2-1):c.484G>A (p.Ala162Thr)
NM_001079668.3(NKX2-1):c.530G>T (p.Gly177Val)
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter) rs137852693
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln) rs1555349221
NM_001079668.3(NKX2-1):c.623G>C (p.Arg208Pro) rs1325836054
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001079668.3(NKX2-1):c.695C>T (p.Pro232Leu) rs1881107186
NM_001079668.3(NKX2-1):c.818_825del (p.Gly273fs) rs1555349184
NM_001079668.3(NKX2-1):c.896C>T (p.Pro299Leu)
NM_001079668.3(NKX2-1):c.910G>C (p.Ala304Pro)
NM_001079668.3(NKX2-1):c.921_930del (p.Gly308fs) rs1555349160
NM_001079668.3(NKX2-1):c.995C>A (p.Ala332Glu)

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