ClinVar Miner

List of variants in gene NKX2-5 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 188
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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.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
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.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.180G>A (p.Glu60=) rs373636712 0.00027
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.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu) rs761596254 0.00009
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
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.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=) rs974468549 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys) rs866974584 0.00004
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr) rs770192204 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr) rs1279595214 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.809G>A (p.Cys270Tyr) rs587782931 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_004387.4(NKX2-5):c.939G>A (p.Ser313=) rs748311298 0.00003
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) rs769233111 0.00002
NM_004387.4(NKX2-5):c.381G>A (p.Ala127=) rs957139658 0.00002
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=) rs1315138203 0.00002
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) rs373421818 0.00002
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=) rs1057523798 0.00001
NM_004387.4(NKX2-5):c.168C>T (p.Tyr56=) rs756377692 0.00001
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val) rs1012750146 0.00001
NM_004387.4(NKX2-5):c.282A>G (p.Pro94=) rs1468594356 0.00001
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu) rs763729448 0.00001
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=) rs767243751 0.00001
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=) rs759221178 0.00001
NM_004387.4(NKX2-5):c.387C>T (p.Asn129=) rs750029908 0.00001
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) rs754394393 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.450C>T (p.Val150=) rs376636481 0.00001
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys) rs1310163851 0.00001
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg) rs1761355968 0.00001
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=) rs767559311 0.00001
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr) rs760305842 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.695G>C (p.Gly232Ala) rs759339072 0.00001
NM_004387.4(NKX2-5):c.705G>C (p.Ala235=) rs202071628 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) rs936204422 0.00001
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) rs1196710127 0.00001
NM_004387.4(NKX2-5):c.957T>C (p.His319=) rs1244640427 0.00001
NM_004387.4(NKX2-5):c.-2C>T
NM_004387.4(NKX2-5):c.100T>C (p.Ser34Pro)
NM_004387.4(NKX2-5):c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla)
NM_004387.4(NKX2-5):c.126G>T (p.Ala42=)
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=) rs747865362
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=) rs760954359
NM_004387.4(NKX2-5):c.199C>G (p.Pro67Ala)
NM_004387.4(NKX2-5):c.199C>T (p.Pro67Ser)
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=)
NM_004387.4(NKX2-5):c.212del (p.Ala71fs) rs2113906234
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.248C>T (p.Ala83Val)
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
NM_004387.4(NKX2-5):c.267C>T (p.Ala89=)
NM_004387.4(NKX2-5):c.270C>T (p.Pro90=)
NM_004387.4(NKX2-5):c.286G>A (p.Ala96Thr)
NM_004387.4(NKX2-5):c.293G>C (p.Ser98Thr)
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) rs550046293
NM_004387.4(NKX2-5):c.317C>G (p.Pro106Arg)
NM_004387.4(NKX2-5):c.334+3G>A
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) rs760723447
NM_004387.4(NKX2-5):c.346C>T (p.Leu116=)
NM_004387.4(NKX2-5):c.350A>C (p.Gln117Pro)
NM_004387.4(NKX2-5):c.351G>C (p.Gln117His)
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val) rs369025518
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.365T>C (p.Leu122Pro)
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
NM_004387.4(NKX2-5):c.382G>A (p.Asp128Asn)
NM_004387.4(NKX2-5):c.390G>A (p.Ala130=)
NM_004387.4(NKX2-5):c.404C>G (p.Ala135Gly)
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
NM_004387.4(NKX2-5):c.421C>A (p.Pro141Thr)
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
NM_004387.4(NKX2-5):c.435C>G (p.Phe145Leu)
NM_004387.4(NKX2-5):c.436T>A (p.Ser146Thr)
NM_004387.4(NKX2-5):c.438G>A (p.Ser146=)
NM_004387.4(NKX2-5):c.464G>A (p.Arg155Gln)
NM_004387.4(NKX2-5):c.480G>T (p.Gln160His)
NM_004387.4(NKX2-5):c.485A>G (p.Tyr162Cys)
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) rs1554093487
NM_004387.4(NKX2-5):c.495C>T (p.Ala165=)
NM_004387.4(NKX2-5):c.501A>G (p.Glu167=)
NM_004387.4(NKX2-5):c.504C>T (p.Arg168=)
NM_004387.4(NKX2-5):c.511C>T (p.Leu171=)
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
NM_004387.4(NKX2-5):c.520G>T (p.Val174Leu)
NM_004387.4(NKX2-5):c.528A>G (p.Lys176=)
NM_004387.4(NKX2-5):c.531C>T (p.Leu177=)
NM_004387.4(NKX2-5):c.546C>G (p.Val182=)
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
NM_004387.4(NKX2-5):c.554G>C (p.Trp185Ser)
NM_004387.4(NKX2-5):c.565C>A (p.Arg189=)
NM_004387.4(NKX2-5):c.567G>A (p.Arg189=)
NM_004387.4(NKX2-5):c.585G>A (p.Arg195=)
NM_004387.4(NKX2-5):c.588G>A (p.Gln196=)
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.591G>A (p.Arg197=) rs1761354689
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro) rs1471444031
NM_004387.4(NKX2-5):c.603T>G (p.Thr201=) rs980492525
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) rs1554093461
NM_004387.4(NKX2-5):c.606G>A (p.Leu202=)
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly) rs771533553
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=) rs946354549
NM_004387.4(NKX2-5):c.617G>A (p.Gly206Glu)
NM_004387.4(NKX2-5):c.627GCC[3] (p.Pro213_Pro214del) rs746833511
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del) rs746833511
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.630G>A (p.Pro210=)
NM_004387.4(NKX2-5):c.630G>C (p.Pro210=)
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu) rs372282873
NM_004387.4(NKX2-5):c.642T>G (p.Pro214=)
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.664G>C (p.Val222Leu)
NM_004387.4(NKX2-5):c.675C>T (p.Arg225=)
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) rs2113901265
NM_004387.4(NKX2-5):c.687A>T (p.Pro229=)
NM_004387.4(NKX2-5):c.693A>C (p.Leu231=)
NM_004387.4(NKX2-5):c.697G>C (p.Asp233His)
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
NM_004387.4(NKX2-5):c.702G>A (p.Ser234=)
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) rs1761349696
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser) rs867226708
NM_004387.4(NKX2-5):c.739C>A (p.Pro247Thr)
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala)
NM_004387.4(NKX2-5):c.741C>G (p.Pro247=)
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211
NM_004387.4(NKX2-5):c.770C>T (p.Pro257Leu)
NM_004387.4(NKX2-5):c.780C>A (p.Gly260=)
NM_004387.4(NKX2-5):c.784G>T (p.Ala262Ser)
NM_004387.4(NKX2-5):c.787G>C (p.Ala263Pro)
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
NM_004387.4(NKX2-5):c.806G>A (p.Ser269Asn)
NM_004387.4(NKX2-5):c.816C>A (p.Ala272=)
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
NM_004387.4(NKX2-5):c.825C>T (p.Pro275=)
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg) rs772729751
NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)
NM_004387.4(NKX2-5):c.857C>T (p.Ala286Val)
NM_004387.4(NKX2-5):c.85G>A (p.Ala29Thr) rs1554093718
NM_004387.4(NKX2-5):c.863C>T (p.Ala288Val)
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr) rs1318592912
NM_004387.4(NKX2-5):c.876C>T (p.Phe292=)
NM_004387.4(NKX2-5):c.87C>A (p.Ala29=)
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=) rs1554093405
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe) rs569535312
NM_004387.4(NKX2-5):c.899T>C (p.Leu300Ser)
NM_004387.4(NKX2-5):c.900G>C (p.Leu300Phe)
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=) rs529731562
NM_004387.4(NKX2-5):c.921G>A (p.Gly307=)
NM_004387.4(NKX2-5):c.931A>G (p.Ser311Gly)
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
NM_004387.4(NKX2-5):c.945G>C (p.Val315=)
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met) rs2113900561
NM_004387.4(NKX2-5):c.961A>G (p.Ile321Val)
NM_004387.4(NKX2-5):c.97C>T (p.Leu33Phe)
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=) rs2113906643

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