List of variants in gene ZIC3 reported as pathogenic for congenital anomaly of cardiovascular system

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del
NM_003413.4(ZIC3):c.109_112del (p.Leu37fs)
NM_003413.4(ZIC3):c.1103del (p.Arg368fs)	rs2124185586
NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu)	rs104894962
NM_003413.4(ZIC3):c.1222A>T (p.Lys408Ter)	rs387906498
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter)	rs1569345504
NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter)	rs1569345504
NM_003413.4(ZIC3):c.463G>T (p.Glu155Ter)
NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs)	rs1556029841
NM_003413.4(ZIC3):c.508_514del (p.Ala170fs)	rs1931360759
NM_003413.4(ZIC3):c.535dup (p.Val179fs)	rs1569345723
NM_003413.4(ZIC3):c.571del (p.Glu191fs)	rs1602742808
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs)	rs1569345742
NM_003413.4(ZIC3):c.599del (p.Arg200fs)
NM_003413.4(ZIC3):c.727_740del (p.Met243fs)
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter)	rs104894960
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter)	rs1203069392
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser)	rs122463167
NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser)	rs104894961
NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly)	rs122463168
NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter)	rs122462166
NM_003413.4(ZIC3):c.810del (p.Thr271fs)	rs2124184171
NM_003413.4(ZIC3):c.860_864del (p.Val287fs)	rs2124184204
NM_003413.4(ZIC3):c.968C>T (p.Thr323Met)	rs122462165
NM_003413.4(ZIC3):c.972_973insTT (p.Glu325fs)	rs2124184319
NM_003413.4(ZIC3):c.976A>T (p.Lys326Ter)

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.