List of variants studied for Keipert syndrome

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

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001448.3(GPC4):c.-20C>T	rs2073288	0.41879
NM_001448.3(GPC4):c.1173G>T (p.Glu391Asp)	rs1129980	0.38279
NM_001448.3(GPC4):c.1325C>T (p.Ala442Val)	rs1048369	0.38206
NM_001448.3(GPC4):c.650C>T (p.Ala217Val)	rs2068380433	0.00002
NM_001448.3(GPC4):c.656G>A (p.Arg219His)	rs2068380290	0.00001
NM_001448.3(GPC4):c.1051C>T (p.Arg351Ter)
NM_001448.3(GPC4):c.1425GAA[1] (p.Lys476del)
NM_001448.3(GPC4):c.1450G>A (p.Val484Met)
NM_001448.3(GPC4):c.1486G>T (p.Glu496Ter)	rs1556022644
NM_001448.3(GPC4):c.1506_1507del (p.Cys502_Glu503delinsTer)
NM_001448.3(GPC4):c.1516C>T (p.Gln506Ter)	rs1556022641
NM_001448.3(GPC4):c.1518_1521dup (p.Pro508fs)	rs1569339879
NM_001448.3(GPC4):c.1609C>T (p.Gln537Ter)
NM_001448.3(GPC4):c.316del (p.Asp106fs)	rs1556028269
NM_001448.3(GPC4):c.320-15del	rs57898529
NM_001448.3(GPC4):c.512G>A (p.Arg171Gln)
NM_001448.3(GPC4):c.701dup (p.Val235fs)	rs1556025980
NM_001448.3(GPC4):c.742del (p.Leu248fs)	rs1569341521

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.