ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001079668.3(NKX2-1):c.*210T>A rs10139625 0.65544
NM_001079668.3(NKX2-1):c.463+278G>A rs114814082 0.00998
NM_001079668.3(NKX2-1):c.464-306G>A rs186809227 0.00514
NM_001079668.3(NKX2-1):c.78-48C>T rs147791173 0.00503
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001079668.3(NKX2-1):c.464-64C>T rs372806369 0.00322
NM_001079668.3(NKX2-1):c.316C>T (p.Pro106Ser) rs746531863 0.00001
NM_001079668.3(NKX2-1):c.809G>A (p.Gly270Glu) rs1001194608 0.00001
NM_001079668.3(NKX2-1):c.*143C>A rs564521320
NM_001079668.3(NKX2-1):c.*176_*179del rs200848675
NM_001079668.3(NKX2-1):c.*184_*186C[5]ACCC[1] rs141117763
NM_001079668.3(NKX2-1):c.*217dup rs71124756
NM_001079668.3(NKX2-1):c.*292dup rs140427692
NM_001079668.3(NKX2-1):c.1206A>C (p.Ter402Cys) rs1064793819
NM_001079668.3(NKX2-1):c.266_269delinsCAC (p.Gly89fs) rs1555349390
NM_001079668.3(NKX2-1):c.311G>A (p.Gly104Glu) rs761461360
NM_001079668.3(NKX2-1):c.326C>A (p.Ser109Ter) rs2139411895
NM_001079668.3(NKX2-1):c.351C>A (p.Cys117Ter) rs2139411763
NM_001079668.3(NKX2-1):c.463+3_463+6del rs1881201190
NM_001079668.3(NKX2-1):c.512del (p.Gly171fs) rs886041803
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter) rs863225300
NM_001079668.3(NKX2-1):c.532G>T (p.Asp178Tyr) rs1881119358
NM_001079668.3(NKX2-1):c.558G>A (p.Leu186=)
NM_001079668.3(NKX2-1):c.572G>C (p.Arg191Pro)
NM_001079668.3(NKX2-1):c.589C>T (p.Leu197Phe) rs2139407768
NM_001079668.3(NKX2-1):c.596C>A (p.Ser199Ter) rs796744527
NM_001079668.3(NKX2-1):c.606G>C (p.Gln202His) rs762575015
NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter) rs765736023
NM_001079668.3(NKX2-1):c.623G>T (p.Arg208Leu)
NM_001079668.3(NKX2-1):c.637C>T (p.Gln213Ter) rs886041466
NM_001079668.3(NKX2-1):c.645C>A (p.Tyr215Ter) rs1566615444
NM_001079668.3(NKX2-1):c.650C>G (p.Ser217Trp)
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079668.3(NKX2-1):c.713G>T (p.Trp238Leu) rs28936672
NM_001079668.3(NKX2-1):c.727C>T (p.Arg243Cys) rs28936671
NM_001079668.3(NKX2-1):c.728G>A (p.Arg243His) rs1057524869
NM_001079668.3(NKX2-1):c.754_755insT (p.Asp252fs) rs2139407171
NM_001079668.3(NKX2-1):c.757A>C (p.Lys253Gln) rs2502628298
NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup) rs577015120
NM_001079668.3(NKX2-1):c.817G>T (p.Gly273Trp) rs1227488905
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079668.3(NKX2-1):c.964_975del (p.His322_Gln325del) rs1064796655
NM_001079668.3(NKX2-1):c.964_975dup (p.His322_Gln325dup) rs1064796655
NM_001079668.3(NKX2-1):c.965A>G (p.His322Arg) rs2502626768
NM_001079668.3(NKX2-1):c.976_994del (p.Ala326fs) rs1594403386
NM_001079668.3(NKX2-1):c.978_1056del (p.Ala330fs)

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