List of variants studied for Persistent truncus arteriosus

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)	rs28936670	0.01082
NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu)	rs267606914
NM_005257.6(GATA6):c.1396A>C (p.Asn466His)	rs387906813
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs)	rs1598737972
NM_005257.6(GATA6):c.969CCA[9] (p.His333del)	rs562588574

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.