List of variants studied for Schinzel-Giedion syndrome by Genetic Services Laboratory, University of Chicago

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)	rs117498128	0.00693
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=)	rs3744824	0.00067
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)	rs574196735	0.00066
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys)	rs587784381	0.00016
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly)	rs587784380	0.00004
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=)	rs374300895	0.00004
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	rs267607042	0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	rs267607038	0.00001
NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	rs797045952
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)	rs267607042
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	rs267607040
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=)	rs8096662
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=)	rs8096662

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.