List of variants studied for atrial septal defect 7 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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.262del (p.Ala88fs)	rs606231360
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu)	rs387906774
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile)	rs387906773
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter)	rs104893901
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)	rs104893900
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys)	rs104893906
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter)	rs104893903
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter)	rs104893907
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.