ClinVar Miner

List of variants reported as likely benign for atrial septal defect 7

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
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.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.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.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

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