ClinVar Miner

List of variants in gene NKX2-5 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.462G>A (p.Glu154=) rs909098202 0.00004
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=) rs370499146 0.00004
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.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.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.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.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.387C>T (p.Asn129=) rs750029908 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.450C>T (p.Val150=) rs376636481 0.00001
NM_004387.4(NKX2-5):c.48C>T (p.Asp16=) rs1380213330 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.705G>C (p.Ala235=) rs202071628 0.00001
NM_004387.4(NKX2-5):c.828C>T (p.Ala276=) rs762836048 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.957T>C (p.His319=) rs1244640427 0.00001
NM_004387.4(NKX2-5):c.132C>G (p.Ser44=)
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.177C>A (p.Pro59=)
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.207G>A (p.Leu69=)
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=) rs2113906146
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.246T>C (p.Cys82=)
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.261C>T (p.Pro87=)
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala) rs550046293
NM_004387.4(NKX2-5):c.300C>G (p.Pro100=)
NM_004387.4(NKX2-5):c.315C>T (p.Asp105=)
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.335-5C>T rs2113902342
NM_004387.4(NKX2-5):c.335-6C>T
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.369G>A (p.Glu123=)
NM_004387.4(NKX2-5):c.381G>T (p.Ala127=)
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) rs750029908
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.423G>A (p.Pro141=)
NM_004387.4(NKX2-5):c.429G>A (p.Val143=)
NM_004387.4(NKX2-5):c.432C>T (p.Leu144=) rs1182838417
NM_004387.4(NKX2-5):c.465G>A (p.Arg155=)
NM_004387.4(NKX2-5):c.489G>T (p.Leu163=) rs2113901761
NM_004387.4(NKX2-5):c.513G>A (p.Leu171=)
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.582G>A (p.Lys194=)
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.60G>C (p.Leu20=) rs554604572
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=) rs946354549
NM_004387.4(NKX2-5):c.615G>A (p.Val205=)
NM_004387.4(NKX2-5):c.627G>A (p.Pro209=)
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del) rs746833511
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu) rs372282873
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.690C>T (p.Cys230=)
NM_004387.4(NKX2-5):c.699C>T (p.Asp233=)
NM_004387.4(NKX2-5):c.723C>T (p.Tyr241=) rs1204175293
NM_004387.4(NKX2-5):c.78C>T (p.Ser26=) rs2113906717
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.819T>A (p.Ala273=) rs2113900942
NM_004387.4(NKX2-5):c.828C>G (p.Ala276=) rs762836048
NM_004387.4(NKX2-5):c.837C>T (p.Ser279=) rs1761345000
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.87C>G (p.Ala29=) rs112320174
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=) rs1554093405
NM_004387.4(NKX2-5):c.885C>T (p.Phe295=) rs150581386
NM_004387.4(NKX2-5):c.888C>A (p.Gly296=)
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.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.966A>G (p.Arg322=)
NM_004387.4(NKX2-5):c.96G>A (p.Glu32=) rs776310516
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=) rs2113906643

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.