ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.78-151A>G rs1003307358 0.00015
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983 0.00009
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser) rs200560568 0.00006
NM_001079668.3(NKX2-1):c.267dup (p.His90fs) rs1594407150
NM_001079668.3(NKX2-1):c.464-2A>T rs587776708
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) rs863225300
NM_001079668.3(NKX2-1):c.533del (p.Asp178fs) rs2139408021
NM_001079668.3(NKX2-1):c.623G>C (p.Arg208Pro) rs1325836054
NM_001079668.3(NKX2-1):c.713G>C (p.Trp238Ser) rs28936672
NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter) rs1594403990
NM_001079668.3(NKX2-1):c.789CGG[3] (p.Gly271del) rs769203758
NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup) rs577015120
NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys) rs1594403453

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