List of variants in gene SMC1A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006306.4(SMC1A):c.1545+4A>C	rs377270943	0.00129
NM_006306.4(SMC1A):c.*2609A>C	rs192734396	0.00092
NM_006306.4(SMC1A):c.*4382A>G	rs906340789	0.00055
NM_006306.4(SMC1A):c.*2948G>T	rs183355603	0.00049
NM_006306.4(SMC1A):c.*5489G>T	rs1007398058	0.00040
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)	rs139654605	0.00039
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)	rs147952638	0.00019
NM_006306.4(SMC1A):c.2863-8C>T	rs782738954	0.00005
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=)	rs374246357	0.00004
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=)	rs781957759	0.00001
NM_006306.4(SMC1A):c.2191C>T (p.Leu731=)	rs782301753	0.00001
NM_006306.4(SMC1A):c.381C>T (p.Leu127=)	rs782546548	0.00001
NM_006306.4(SMC1A):c.-10C>T
NM_006306.4(SMC1A):c.2049G>A (p.Glu683=)
NM_006306.4(SMC1A):c.2422T>C (p.Leu808=)
NM_006306.4(SMC1A):c.2478C>T (p.Asn826=)
NM_006306.4(SMC1A):c.2643G>A (p.Lys881=)	rs1602405773
NM_006306.4(SMC1A):c.3135T>C (p.Phe1045=)	rs1602398671
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)	rs782763816
NM_006306.4(SMC1A):c.654G>A (p.Arg218=)	rs2146605426

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.