ClinVar Miner

List of variants in gene NKX2-5 reported as pathogenic for atrial septal defect 7

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.(?_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.147_163delinsGCCTCCT (p.Ala50fs) rs1561621507
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs) rs1761438700
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.212del (p.Ala71fs) rs2113906234
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) rs606231358
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs) rs606231359
NM_004387.4(NKX2-5):c.230del (p.Pro77fs) rs2113906167
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs) rs1761434175
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs) rs2113906022
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.270del (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
NM_004387.4(NKX2-5):c.281del (p.Pro94fs) rs2113905914
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
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.328A>T (p.Lys110Ter)
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.375dup (p.Glu126fs) rs1561619801
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.417del (p.Lys140fs)
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs) rs2113902012
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.44A>T (p.Lys15Ile) rs387906773
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.486C>A (p.Tyr162Ter) rs1456289029
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) rs1554093487
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) rs104893901
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro) rs797045791
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.554G>A (p.Trp185Ter)
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.585del (p.Gln196fs) rs2113901553
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) rs104893903
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs) rs2113901504
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) rs1554093461
NM_004387.4(NKX2-5):c.618del (p.Leu207fs) rs587782929
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs)
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs)
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
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.701C>A (p.Ser234Ter) rs773922431
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) rs1554093433
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) rs587782930
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter) rs758539727
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
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.778_784dup (p.Ala262fs) rs2113901025
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) rs137852683

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.