ClinVar Miner

List of variants in gene NKX2-6 reported as uncertain significance for congenital anomaly of cardiovascular system

Included ClinVar conditions (333):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001136271.3(NKX2-6):c.121T>A (p.Phe41Ile) rs576577900 0.00039
NM_001136271.3(NKX2-6):c.464G>T (p.Arg155Leu) rs534202593 0.00036
NM_001136271.3(NKX2-6):c.895A>G (p.Arg299Gly) rs564297816 0.00029
NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro) rs368111443 0.00012
NM_001136271.3(NKX2-6):c.171C>A (p.Asn57Lys) rs558299051 0.00011
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=) rs768775204 0.00008
NM_001136271.3(NKX2-6):c.274C>A (p.Gln92Lys) rs530501230 0.00007
NM_001136271.3(NKX2-6):c.649G>T (p.Gly217Cys) rs946224551 0.00004
NM_001136271.3(NKX2-6):c.673C>T (p.Pro225Ser) rs913645847 0.00004
NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His) rs916318048 0.00003
NM_001136271.3(NKX2-6):c.826G>T (p.Ala276Ser) rs959054178 0.00003
NM_001136271.3(NKX2-6):c.125A>G (p.Gln42Arg) rs1440787889 0.00001
NM_001136271.3(NKX2-6):c.181G>A (p.Gly61Ser) rs774277973 0.00001
NM_001136271.3(NKX2-6):c.35C>T (p.Ser12Leu) rs1254295378 0.00001
NM_001136271.3(NKX2-6):c.434T>C (p.Leu145Pro) rs1369416257 0.00001
NM_001136271.3(NKX2-6):c.50T>C (p.Leu17Pro) rs1197285444 0.00001
NM_001136271.3(NKX2-6):c.538T>C (p.Phe180Leu) rs1165279653 0.00001
NM_001136271.3(NKX2-6):c.625G>T (p.Ala209Ser) rs941121273 0.00001
NM_001136271.3(NKX2-6):c.142G>T (p.Ala48Ser)
NM_001136271.3(NKX2-6):c.168C>A (p.His56Gln) rs1801092012
NM_001136271.3(NKX2-6):c.226C>T (p.Pro76Ser)
NM_001136271.3(NKX2-6):c.281G>T (p.Gly94Val) rs1801035668
NM_001136271.3(NKX2-6):c.298C>A (p.Pro100Thr)
NM_001136271.3(NKX2-6):c.314C>G (p.Thr105Ser)
NM_001136271.3(NKX2-6):c.315del (p.Arg106fs)
NM_001136271.3(NKX2-6):c.340A>C (p.Asn114His)
NM_001136271.3(NKX2-6):c.340_348dup (p.Asn114_Gly116dup) rs780012501
NM_001136271.3(NKX2-6):c.364G>T (p.Gly122Cys) rs772831506
NM_001136271.3(NKX2-6):c.367C>G (p.Arg123Gly) rs1451266541
NM_001136271.3(NKX2-6):c.415T>C (p.Phe139Leu)
NM_001136271.3(NKX2-6):c.446G>A (p.Arg149Gln)
NM_001136271.3(NKX2-6):c.464G>C (p.Arg155Pro) rs534202593
NM_001136271.3(NKX2-6):c.478C>T (p.Pro160Ser) rs1461236642
NM_001136271.3(NKX2-6):c.521C>T (p.Thr174Met)
NM_001136271.3(NKX2-6):c.543G>C (p.Gln181His) rs1801027083
NM_001136271.3(NKX2-6):c.572G>T (p.Arg191Leu)
NM_001136271.3(NKX2-6):c.614C>T (p.Pro205Leu)
NM_001136271.3(NKX2-6):c.620G>A (p.Arg207Gln)
NM_001136271.3(NKX2-6):c.632C>G (p.Pro211Arg)
NM_001136271.3(NKX2-6):c.686C>T (p.Ala229Val) rs1563303655
NM_001136271.3(NKX2-6):c.698C>A (p.Pro233His)
NM_001136271.3(NKX2-6):c.745G>A (p.Gly249Arg) rs752427485
NM_001136271.3(NKX2-6):c.86_87insT (p.Pro30fs)

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