List of variants in gene combination CASD1, SGCE reported as likely pathogenic 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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003919.3(SGCE):c.193G>T (p.Glu65Ter)	rs1064797339
NM_003919.3(SGCE):c.233-2del	rs1562864687
NM_003919.3(SGCE):c.549_552del (p.Phe183fs)	rs1554352952
NM_003919.3(SGCE):c.667del (p.Tyr223fs)	rs1057519246
NM_003919.3(SGCE):c.707T>G (p.Leu236Ter)	rs1554345208
NM_003919.3(SGCE):c.715_719dup (p.Asn241fs)	rs1554345179
NM_003919.3(SGCE):c.800_804del (p.Phe266_Tyr267insTer)	rs1584546056
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)	rs1562811414
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)	rs372686312

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.