List of variants reported as benign for Schimke immuno-osseous dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP
NM_014140.3(SMARCAL1):c.-218C>T	rs3755141
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln)	rs2066518
NM_014140.3(SMARCAL1):c.1212G>A (p.Ala404=)	rs2066525
NM_014140.3(SMARCAL1):c.1243A>G (p.Ser415Gly)	rs58848916
NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val)	rs2066520
NM_014140.3(SMARCAL1):c.127G>A (p.Ala43Thr)	rs2066524
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=)	rs2066526
NM_014140.3(SMARCAL1):c.1995C>T (p.Ala665=)	rs151241914
NM_014140.3(SMARCAL1):c.341G>A (p.Arg114His)	rs11555797
NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=)	rs35907255
NM_014140.3(SMARCAL1):c.603G>C (p.Gly201=)	rs35048226
NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=)	rs199805770
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala)	rs146084305
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg)	rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=)	rs2066513

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.