List of variants in gene SMC1A reported as pathogenic for central nervous system disorder

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)	rs2075701790
NM_006306.4(SMC1A):c.1911+1G>T	rs2075687835
NM_006306.4(SMC1A):c.2076del (p.Lys692fs)	rs2146599361
NM_006306.4(SMC1A):c.2122del (p.Leu708fs)	rs2146599339
NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter)	rs2075681060
NM_006306.4(SMC1A):c.2364del (p.Asn788fs)	rs2075680107
NM_006306.4(SMC1A):c.2394del (p.Lys798fs)	rs1569356555
NM_006306.4(SMC1A):c.2477del (p.Asn826fs)	rs2075664229
NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly)	rs2075651835
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)	rs863225458
NM_006306.4(SMC1A):c.298+2T>C
NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter)	rs2075591576
NM_006306.4(SMC1A):c.3123del (p.Ser1042fs)
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)	rs2146582701
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)	rs863225459

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.