ClinVar Miner

List of variants in gene NKX2-5 studied for atrial septal defect 7

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 423
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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
NC_000005.10:g.173235491T>C rs118026695 0.00176
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.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.*296G>C rs540202205 0.00009
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.370A>G (p.Lys124Glu) rs781260821 0.00004
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=) rs974468549 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.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.334+19C>T rs755215586 0.00003
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.257T>C (p.Phe86Ser) rs373807012 0.00002
NM_004387.4(NKX2-5):c.381G>A (p.Ala127=) rs957139658 0.00002
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His) rs1489743522 0.00002
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=) rs1315138203 0.00002
NM_004387.4(NKX2-5):c.605T>C (p.Leu202Pro) rs768499098 0.00002
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys) rs751684900 0.00002
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) rs373421818 0.00002
NM_004387.4(NKX2-5):c.898T>C (p.Leu300=) rs761208569 0.00002
NM_004387.4(NKX2-5):c.915C>T (p.Ser305=) rs760182745 0.00002
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977 0.00002
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) rs746594822 0.00001
NM_004387.4(NKX2-5):c.117G>A (p.Ala39=) rs1282271902 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.169G>T (p.Ala57Ser) rs549161381 0.00001
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val) rs1012750146 0.00001
NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly) rs1216673146 0.00001
NM_004387.4(NKX2-5):c.236C>G (p.Pro79Arg) rs777921797 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.295G>T (p.Asp99Tyr) rs1761431105 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.344C>T (p.Ala115Val) rs529610517 0.00001
NM_004387.4(NKX2-5):c.385A>G (p.Asn129Asp) rs758000160 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.420G>A (p.Lys140=) rs1761361713 0.00001
NM_004387.4(NKX2-5):c.444G>A (p.Ala148=) rs776529245 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.48C>T (p.Asp16=) rs1380213330 0.00001
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly) rs1761356979 0.00001
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg) rs1761355968 0.00001
NM_004387.4(NKX2-5):c.558C>T (p.Phe186=) rs994615466 0.00001
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=) rs767559311 0.00001
NM_004387.4(NKX2-5):c.639G>C (p.Pro213=) rs1190579821 0.00001
NM_004387.4(NKX2-5):c.645C>T (p.Ala215=) rs755052461 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.705G>C (p.Ala235=) rs202071628 0.00001
NM_004387.4(NKX2-5):c.706C>T (p.Pro236Ser) rs770192204 0.00001
NM_004387.4(NKX2-5):c.727G>A (p.Val243Met) rs781370140 0.00001
NM_004387.4(NKX2-5):c.772G>A (p.Gly258Ser) rs772889193 0.00001
NM_004387.4(NKX2-5):c.826G>A (p.Ala276Thr) rs1425022333 0.00001
NM_004387.4(NKX2-5):c.828C>T (p.Ala276=) rs762836048 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.849G>A (p.Pro283=) rs769114793 0.00001
NM_004387.4(NKX2-5):c.84T>A (p.Ala28=) rs1403843686 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.89C>A (p.Ala30Asp) rs1425683417 0.00001
NM_004387.4(NKX2-5):c.907G>T (p.Val303Phe) rs772495396 0.00001
NM_004387.4(NKX2-5):c.91G>A (p.Gly31Arg) rs1360215151 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.96G>C (p.Glu32Asp) rs776310516 0.00001
NC_000005.10:g.(?_173232273)_(173245300_?)del
NC_000005.10:g.(?_173232549)_(173245300_?)del
NC_000005.9:g.(?_172657631)_(172661899_?)del
NC_000005.9:g.(?_172659552)_(172672303_?)dup
NC_000005.9:g.(?_172659748)_(172666091_?)del
NM_004387.3(NKX2-5):c.-229_*465del
NM_004387.3(NKX2-5):c.-229_334del rs1581111034
NM_004387.4(NKX2-5):c.107G>A (p.Arg36His)
NM_004387.4(NKX2-5):c.10A>G (p.Ser4Gly)
NM_004387.4(NKX2-5):c.116C>G (p.Ala39Gly) rs1234717083
NM_004387.4(NKX2-5):c.124G>A (p.Ala42Thr)
NM_004387.4(NKX2-5):c.125C>T (p.Ala42Val) rs1761439619
NM_004387.4(NKX2-5):c.132C>G (p.Ser44=)
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
NM_004387.4(NKX2-5):c.143T>C (p.Leu48Pro)
NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs) rs1561621507
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
NM_004387.4(NKX2-5):c.156G>T (p.Lys52Asn)
NM_004387.4(NKX2-5):c.159A>T (p.Pro53=) rs1581111412
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=) rs747865362
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs) rs1761438700
NM_004387.4(NKX2-5):c.167A>G (p.Tyr56Cys) rs1360861650
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter)
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
NM_004387.4(NKX2-5):c.177C>A (p.Pro59=)
NM_004387.4(NKX2-5):c.178G>A (p.Glu60Lys)
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.182C>T (p.Ala61Val)
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=) rs760954359
NM_004387.4(NKX2-5):c.192G>A (p.Pro64=) rs1242630173
NM_004387.4(NKX2-5):c.192G>C (p.Pro64=)
NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu) rs2113906300
NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg) rs1032793565
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=)
NM_004387.4(NKX2-5):c.211G>C (p.Ala71Pro)
NM_004387.4(NKX2-5):c.212del (p.Ala71fs) rs2113906234
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) rs606231358
NM_004387.4(NKX2-5):c.224G>T (p.Arg75Leu) rs1363174603
NM_004387.4(NKX2-5):c.227C>A (p.Ala76Glu)
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs) rs606231359
NM_004387.4(NKX2-5):c.229C>T (p.Pro77Ser) rs771593440
NM_004387.4(NKX2-5):c.230del (p.Pro77fs) rs2113906167
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=) rs2113906146
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln)
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=) rs72554029
NM_004387.4(NKX2-5):c.237G>T (p.Pro79=) rs72554029
NM_004387.4(NKX2-5):c.23C>G (p.Thr8Arg)
NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu) rs904474688
NM_004387.4(NKX2-5):c.246T>C (p.Cys82=)
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs) rs1761434175
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.249G>T (p.Ala83=) rs1442654880
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs) rs2113906022
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
NM_004387.4(NKX2-5):c.261C>T (p.Pro87=)
NM_004387.4(NKX2-5):c.261del (p.Ala88fs) rs2113906009
NM_004387.4(NKX2-5):c.262del (p.Ala88fs) rs606231360
NM_004387.4(NKX2-5):c.265G>C (p.Ala89Pro) rs1761432750
NM_004387.4(NKX2-5):c.266C>A (p.Ala89Asp) rs2113905976
NM_004387.4(NKX2-5):c.270del (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.274T>G (p.Phe92Val)
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser) rs1009994744
NM_004387.4(NKX2-5):c.281del (p.Pro94fs) rs2113905914
NM_004387.4(NKX2-5):c.283C>G (p.Arg95Gly)
NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val) rs760088847
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) rs550046293
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala) rs550046293
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu)
NM_004387.4(NKX2-5):c.300C>G (p.Pro100=)
NM_004387.4(NKX2-5):c.302A>G (p.Asp101Gly)
NM_004387.4(NKX2-5):c.302A>T (p.Asp101Val)
NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter) rs1761430125
NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs)
NM_004387.4(NKX2-5):c.315C>T (p.Asp105=)
NM_004387.4(NKX2-5):c.322G>A (p.Ala108Thr)
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val) rs1581111049
NM_004387.4(NKX2-5):c.325G>A (p.Glu109Lys)
NM_004387.4(NKX2-5):c.328A>T (p.Lys110Ter)
NM_004387.4(NKX2-5):c.334+9G>A rs534308328
NM_004387.4(NKX2-5):c.334+9G>T rs534308328
NM_004387.4(NKX2-5):c.335-16C>T
NM_004387.4(NKX2-5):c.335-18C>T
NM_004387.4(NKX2-5):c.335-3C>T
NM_004387.4(NKX2-5):c.335-5C>T rs2113902342
NM_004387.4(NKX2-5):c.335-5dup rs1316920712
NM_004387.4(NKX2-5):c.335-6C>T
NM_004387.4(NKX2-5):c.335-7C>G rs937339110
NM_004387.4(NKX2-5):c.340T>G (p.Cys114Gly)
NM_004387.4(NKX2-5):c.340_341del (p.Cys114fs) rs2113902320
NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs) rs2113902320
NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter)
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) rs760723447
NM_004387.4(NKX2-5):c.343G>C (p.Ala115Pro)
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val) rs369025518
NM_004387.4(NKX2-5):c.357G>C (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys)
NM_004387.4(NKX2-5):c.369G>A (p.Glu123=)
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs) rs1561619801
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) rs1320947604
NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs) rs2113902216
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) rs387906774
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
NM_004387.4(NKX2-5):c.381G>T (p.Ala127=)
NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr)
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
NM_004387.4(NKX2-5):c.400C>G (p.Arg134Gly)
NM_004387.4(NKX2-5):c.400C>T (p.Arg134Trp) rs1248623506
NM_004387.4(NKX2-5):c.401G>A (p.Arg134Gln)
NM_004387.4(NKX2-5):c.406C>A (p.Arg136=)
NM_004387.4(NKX2-5):c.409C>A (p.Arg137=) rs1260214548
NM_004387.4(NKX2-5):c.410G>A (p.Arg137Gln)
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
NM_004387.4(NKX2-5):c.417del (p.Lys140fs)
NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala) rs774627537
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs) rs2113902012
NM_004387.4(NKX2-5):c.425G>A (p.Arg142His) rs2113902000
NM_004387.4(NKX2-5):c.429G>A (p.Val143=)
NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe) rs1431464297
NM_004387.4(NKX2-5):c.431T>C (p.Leu144Pro) rs747932354
NM_004387.4(NKX2-5):c.432C>T (p.Leu144=) rs1182838417
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu) rs2113901956
NM_004387.4(NKX2-5):c.434dup (p.Ser146fs) rs2113901953
NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter) rs397516909
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His) rs1230869762
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) rs387906773
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro) rs2113901873
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly) rs587782928
NM_004387.4(NKX2-5):c.462del (p.Glu154fs) rs2113901862
NM_004387.4(NKX2-5):c.464G>C (p.Arg155Pro) rs1018993104
NM_004387.4(NKX2-5):c.465G>A (p.Arg155=)
NM_004387.4(NKX2-5):c.467G>A (p.Arg156His) rs2113901836
NM_004387.4(NKX2-5):c.46G>A (p.Asp16Asn) rs750904275
NM_004387.4(NKX2-5):c.473A>G (p.Lys158Arg) rs1761358755
NM_004387.4(NKX2-5):c.475C>G (p.Gln159Glu)
NM_004387.4(NKX2-5):c.477G>C (p.Gln159His)
NM_004387.4(NKX2-5):c.477G>T (p.Gln159His)
NM_004387.4(NKX2-5):c.481C>G (p.Arg161Gly) rs2113901789
NM_004387.4(NKX2-5):c.484T>A (p.Tyr162Asn)
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter) rs1456289029
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
NM_004387.4(NKX2-5):c.489G>T (p.Leu163=) rs2113901761
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) rs1554093487
NM_004387.4(NKX2-5):c.494C>A (p.Ala165Asp) rs984722259
NM_004387.4(NKX2-5):c.494C>G (p.Ala165Gly)
NM_004387.4(NKX2-5):c.499G>A (p.Glu167Lys) rs1761357696
NM_004387.4(NKX2-5):c.506A>G (p.Asp169Gly)
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) rs104893901
NM_004387.4(NKX2-5):c.512T>A (p.Leu171Gln)
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro) rs797045791
NM_004387.4(NKX2-5):c.513G>A (p.Leu171=)
NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr) rs878854704
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro) rs1761356915
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met) rs104893900
NM_004387.4(NKX2-5):c.542dup (p.Val182fs)
NM_004387.4(NKX2-5):c.543G>C (p.Gln181His) rs72554028
NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg) rs2113901612
NM_004387.4(NKX2-5):c.548_556del (p.Lys183_Phe186delinsIle)
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
NM_004387.4(NKX2-5):c.550A>C (p.Ile184Leu)
NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn)
NM_004387.4(NKX2-5):c.554G>A (p.Trp185Ter)
NM_004387.4(NKX2-5):c.559C>G (p.Gln187Glu)
NM_004387.4(NKX2-5):c.563A>C (p.Asn188Thr) rs2113901591
NM_004387.4(NKX2-5):c.565C>A (p.Arg189=)
NM_004387.4(NKX2-5):c.565C>T (p.Arg189Trp) rs759647212
NM_004387.4(NKX2-5):c.566G>A (p.Arg189Gln) rs786205824
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) rs786205824
NM_004387.4(NKX2-5):c.567G>A (p.Arg189=)
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) rs104893906
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys)
NM_004387.4(NKX2-5):c.578G>A (p.Cys193Tyr)
NM_004387.4(NKX2-5):c.582G>A (p.Lys194=)
NM_004387.4(NKX2-5):c.583CGGCAG[1] (p.195RQ[1])
NM_004387.4(NKX2-5):c.584G>C (p.Arg195Pro)
NM_004387.4(NKX2-5):c.585del (p.Gln196fs) rs2113901553
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.592C>T (p.Gln198Ter) rs104893903
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu)
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs) rs2113901504
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.608_616dup (p.Glu203_Val205dup) rs1302021340
NM_004387.4(NKX2-5):c.60G>C (p.Leu20=) rs554604572
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=) rs946354549
NM_004387.4(NKX2-5):c.613G>A (p.Val205Met)
NM_004387.4(NKX2-5):c.615G>A (p.Val205=)
NM_004387.4(NKX2-5):c.618del (p.Leu207fs) rs587782929
NM_004387.4(NKX2-5):c.622C>T (p.Pro208Ser)
NM_004387.4(NKX2-5):c.624_632del (p.Pro212_Pro214del) rs1761352648
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs)
NM_004387.4(NKX2-5):c.627G>A (p.Pro209=)
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.627GCC[7] (p.Pro213_Pro214dup) rs746833511
NM_004387.4(NKX2-5):c.629C>G (p.Pro210Arg)
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs)
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) rs372282873
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu) rs372282873
NM_004387.4(NKX2-5):c.637C>G (p.Pro213Ala) rs1250491634
NM_004387.4(NKX2-5):c.641C>T (p.Pro214Leu)
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
NM_004387.4(NKX2-5):c.649A>G (p.Arg217Gly)
NM_004387.4(NKX2-5):c.64C>G (p.Gln22Glu)
NM_004387.4(NKX2-5):c.651G>A (p.Arg217=)
NM_004387.4(NKX2-5):c.657G>C (p.Ala219=) rs990341478
NM_004387.4(NKX2-5):c.658G>A (p.Val220Met)
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu) rs1554093444
NM_004387.4(NKX2-5):c.668del (p.Leu223fs) rs1581108237
NM_004387.4(NKX2-5):c.671T>C (p.Val224Ala) rs2113901297
NM_004387.4(NKX2-5):c.676G>A (p.Asp226Asn) rs760528062
NM_004387.4(NKX2-5):c.685C>A (p.Pro229Thr)
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) rs2113901265
NM_004387.4(NKX2-5):c.690C>T (p.Cys230=)
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs)
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter)
NM_004387.4(NKX2-5):c.699C>T (p.Asp233=)
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter) rs773922431
NM_004387.4(NKX2-5):c.701C>G (p.Ser234Trp)
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
NM_004387.4(NKX2-5):c.704C>T (p.Ala235Val)
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) rs1761349696
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) rs1554093433
NM_004387.4(NKX2-5):c.713C>T (p.Ala238Val)
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) rs587782930
NM_004387.4(NKX2-5):c.723C>T (p.Tyr241=) rs1204175293
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser) rs867226708
NM_004387.4(NKX2-5):c.724G>C (p.Gly242Arg) rs867226708
NM_004387.4(NKX2-5):c.730G>A (p.Gly244Ser)
NM_004387.4(NKX2-5):c.733C>G (p.Leu245Val) rs1761348880
NM_004387.4(NKX2-5):c.733C>T (p.Leu245Phe)
NM_004387.4(NKX2-5):c.737A>G (p.Asn246Ser)
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala)
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys) rs1131691343
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter) rs758539727
NM_004387.4(NKX2-5):c.746del (p.Gly249fs)
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
NM_004387.4(NKX2-5):c.751A>G (p.Asn251Asp)
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser) rs1327849028
NM_004387.4(NKX2-5):c.752del (p.Asn251fs) rs879253754
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe)
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs) rs2113901025
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004387.4(NKX2-5):c.78C>T (p.Ser26=) rs2113906717
NM_004387.4(NKX2-5):c.799G>A (p.Gly267Ser) rs780688010
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter) rs1761346424
NM_004387.4(NKX2-5):c.813T>A (p.Thr271=)
NM_004387.4(NKX2-5):c.816C>T (p.Ala272=)
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
NM_004387.4(NKX2-5):c.819T>A (p.Ala273=) rs2113900942
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter)
NM_004387.4(NKX2-5):c.823C>T (p.Pro275Ser) rs368366482
NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu) rs1060503097
NM_004387.4(NKX2-5):c.828C>G (p.Ala276=) rs762836048
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg) rs772729751
NM_004387.4(NKX2-5):c.829G>T (p.Gly277Trp) rs772729751
NM_004387.4(NKX2-5):c.833C>T (p.Pro278Leu) rs2113900895
NM_004387.4(NKX2-5):c.837C>T (p.Ser279=) rs1761345000
NM_004387.4(NKX2-5):c.841G>A (p.Ala281Thr)
NM_004387.4(NKX2-5):c.842C>T (p.Ala281Val)
NM_004387.4(NKX2-5):c.847C>G (p.Pro283Ala) rs2113900851
NM_004387.4(NKX2-5):c.847_849dup (p.Pro283dup) rs747608855
NM_004387.4(NKX2-5):c.848C>G (p.Pro283Arg)
NM_004387.4(NKX2-5):c.848C>T (p.Pro283Leu)
NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val) rs1761344289
NM_004387.4(NKX2-5):c.858C>G (p.Ala286=)
NM_004387.4(NKX2-5):c.858C>T (p.Ala286=)
NM_004387.4(NKX2-5):c.861C>A (p.Ala287=)
NM_004387.4(NKX2-5):c.862G>A (p.Ala288Thr)
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.871A>T (p.Asn291Tyr)
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr) rs1318592912
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=) rs1554093405
NM_004387.4(NKX2-5):c.885C>A (p.Phe295Leu) rs150581386
NM_004387.4(NKX2-5):c.885C>T (p.Phe295=) rs150581386
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser) rs1358735679
NM_004387.4(NKX2-5):c.886G>T (p.Gly296Cys) rs1358735679
NM_004387.4(NKX2-5):c.888C>A (p.Gly296=)
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe) rs569535312
NM_004387.4(NKX2-5):c.88G>A (p.Ala30Thr) rs1304644050
NM_004387.4(NKX2-5):c.891C>T (p.Val297=)
NM_004387.4(NKX2-5):c.894G>A (p.Gly298=) rs2113900696
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) rs137852683
NM_004387.4(NKX2-5):c.897C>T (p.Asp299=) rs1060504828
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=) rs529731562
NM_004387.4(NKX2-5):c.918C>T (p.Pro306=)
NM_004387.4(NKX2-5):c.921G>A (p.Gly307=)
NM_004387.4(NKX2-5):c.922A>G (p.Ile308Val) rs2113900634
NM_004387.4(NKX2-5):c.923T>C (p.Ile308Thr)
NM_004387.4(NKX2-5):c.926C>T (p.Pro309Leu)
NM_004387.4(NKX2-5):c.931A>C (p.Ser311Arg)
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
NM_004387.4(NKX2-5):c.940G>T (p.Gly314Ter) rs1761340979
NM_004387.4(NKX2-5):c.941G>A (p.Gly314Glu)
NM_004387.4(NKX2-5):c.947C>A (p.Ser316Tyr)
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met) rs2113900561
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala) rs1581107775
NM_004387.4(NKX2-5):c.957T>A (p.His319Gln)
NM_004387.4(NKX2-5):c.966A>G (p.Arg322=)
NM_004387.4(NKX2-5):c.968C>G (p.Ala323Gly) rs1188394387
NM_004387.4(NKX2-5):c.96G>A (p.Glu32=) rs776310516
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=) rs2113906643

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