ClinVar Miner

List of variants in gene NKX2-5 reported as likely benign for Cardiovascular phenotype

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
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.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.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.408A>G (p.Arg136=) rs974468549 0.00004
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=) rs370499146 0.00004
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=) rs762428190 0.00003
NM_004387.4(NKX2-5):c.939G>A (p.Ser313=) rs748311298 0.00003
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.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.282A>G (p.Pro94=) rs1468594356 0.00001
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=) rs767243751 0.00001
NM_004387.4(NKX2-5):c.387C>T (p.Asn129=) rs750029908 0.00001
NM_004387.4(NKX2-5):c.450C>T (p.Val150=) rs376636481 0.00001
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=) rs767559311 0.00001
NM_004387.4(NKX2-5):c.705G>C (p.Ala235=) rs202071628 0.00001
NM_004387.4(NKX2-5):c.957T>C (p.His319=) rs1244640427 0.00001
NM_004387.4(NKX2-5):c.126G>T (p.Ala42=)
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=) rs747865362
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=) rs760954359
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=)
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
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.346C>T (p.Leu116=)
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.390G>A (p.Ala130=)
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
NM_004387.4(NKX2-5):c.438G>A (p.Ser146=)
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.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.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.591G>A (p.Arg197=) rs1761354689
NM_004387.4(NKX2-5):c.603T>G (p.Thr201=) rs980492525
NM_004387.4(NKX2-5):c.606G>A (p.Leu202=)
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=) rs946354549
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.642T>G (p.Pro214=)
NM_004387.4(NKX2-5):c.675C>T (p.Arg225=)
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.702G>A (p.Ser234=)
NM_004387.4(NKX2-5):c.741C>G (p.Pro247=)
NM_004387.4(NKX2-5):c.780C>A (p.Gly260=)
NM_004387.4(NKX2-5):c.816C>A (p.Ala272=)
NM_004387.4(NKX2-5):c.825C>T (p.Pro275=)
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.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.945G>C (p.Val315=)
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=) rs2113906643

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