ClinVar Miner

List of variants in gene NKX2-5 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_004387.4(NKX2-5):c.335-315A>T rs55880439 0.39924
NM_004387.4(NKX2-5):c.335-311A>T rs3095871 0.39643
NM_004387.4(NKX2-5):c.335-323A>T rs56265301 0.06897
NM_004387.4(NKX2-5):c.334+209_334+212dup rs35204361 0.02165
NM_004387.4(NKX2-5):c.-106A>G rs77083308 0.01589
NC_000005.10:g.173235574C>A rs73317175 0.01483
NM_004387.4(NKX2-5):c.335-307T>A rs536213285 0.01380
NM_004387.4(NKX2-5):c.335-331A>T rs375676786 0.01339
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_004387.4(NKX2-5):c.334+63G>A rs72554031 0.00977
NM_004387.4(NKX2-5):c.335-82C>G rs183405705 0.00712
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_004387.4(NKX2-5):c.*197G>C rs191625345 0.00634
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_004387.4(NKX2-5):c.335-315_335-311del rs767630916 0.00143
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) rs151314714 0.00078
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) rs113818864 0.00071
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu) rs3729754 0.00026
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.462G>A (p.Glu154=) rs909098202 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=) rs370499146 0.00004
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val) rs762090105 0.00003
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=) rs762428190 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=) rs1057523798 0.00001
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.382G>C (p.Asp128His) rs779663474 0.00001
NM_004387.4(NKX2-5):c.419A>G (p.Lys140Arg) rs1253114866 0.00001
NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) rs137852685 0.00001
NM_004387.4(NKX2-5):c.583C>A (p.Arg195=) rs960527591 0.00001
NM_004387.4(NKX2-5):c.677A>G (p.Asp226Gly) rs929243588 0.00001
NM_004387.4(NKX2-5):c.695G>C (p.Gly232Ala) rs759339072 0.00001
NM_004387.4(NKX2-5):c.707C>A (p.Pro236His) rs397515399 0.00001
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) rs936204422 0.00001
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu) rs549406766 0.00001
NM_004387.4(NKX2-5):c.907G>T (p.Val303Phe) rs772495396 0.00001
NM_004387.4(NKX2-5):c.938C>T (p.Ser313Leu) rs769930017 0.00001
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) rs1196710127 0.00001
NM_004387.4(NKX2-5):c.*61G>T rs703752
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.217C>T (p.Leu73=) rs1554093696
NM_004387.4(NKX2-5):c.223C>T (p.Arg75Cys) rs1216673146
NM_004387.4(NKX2-5):c.247G>A (p.Ala83Thr) rs750249799
NM_004387.4(NKX2-5):c.334+9G>T rs534308328
NM_004387.4(NKX2-5):c.335-1G>A
NM_004387.4(NKX2-5):c.335-289G>T rs1228923680
NM_004387.4(NKX2-5):c.335-311_335-303del rs200467566
NM_004387.4(NKX2-5):c.335-311_335-310del rs774726585
NM_004387.4(NKX2-5):c.335-682G>C rs3131915
NM_004387.4(NKX2-5):c.353A>C (p.Lys118Thr)
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.35T>C (p.Phe12Ser) rs1085307815
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) rs387906774
NM_004387.4(NKX2-5):c.380C>T (p.Ala127Val) rs387906774
NM_004387.4(NKX2-5):c.402_407dup (p.Ala135_Arg136dup) rs1554093512
NM_004387.4(NKX2-5):c.410G>C (p.Arg137Pro) rs761127819
NM_004387.4(NKX2-5):c.435C>A (p.Phe145Leu)
NM_004387.4(NKX2-5):c.436T>A (p.Ser146Thr)
NM_004387.4(NKX2-5):c.436T>C (p.Ser146Pro)
NM_004387.4(NKX2-5):c.443del (p.Ala148fs) rs876661381
NM_004387.4(NKX2-5):c.445dup (p.Gln149fs) rs2113901914
NM_004387.4(NKX2-5):c.474G>T (p.Lys158Asn) rs1057518548
NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs) rs797045790
NM_004387.4(NKX2-5):c.505G>T (p.Asp169Tyr)
NM_004387.4(NKX2-5):c.508_516del (p.Gln170_Ala172del) rs786205825
NM_004387.4(NKX2-5):c.523C>G (p.Leu175Val) rs2113901669
NM_004387.4(NKX2-5):c.529C>T (p.Leu177Phe)
NM_004387.4(NKX2-5):c.554_555insC (p.Trp185fs) rs786205826
NM_004387.4(NKX2-5):c.556_560del (p.Phe186fs) rs1581108437
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) rs786205824
NM_004387.4(NKX2-5):c.590G>A (p.Arg197Gln) rs774482632
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.60G>C (p.Leu20=) rs554604572
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.683A>C (p.Lys228Thr) rs922066386
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) rs2113901265
NM_004387.4(NKX2-5):c.686C>T (p.Pro229Leu)
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter) rs773922431
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
NM_004387.4(NKX2-5):c.734T>G (p.Leu245Arg)
NM_004387.4(NKX2-5):c.736A>G (p.Asn246Asp)
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys) rs1131691343
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser) rs1327849028
NM_004387.4(NKX2-5):c.777C>G (p.Tyr259Ter) rs1057520670
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.823C>T (p.Pro275Ser) rs368366482
NM_004387.4(NKX2-5):c.854C>T (p.Thr285Ile) rs2113900817
NM_004387.4(NKX2-5):c.867C>G (p.Asn289Lys)
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser) rs1358735679
NM_004387.4(NKX2-5):c.928C>T (p.Gln310Ter)

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