List of variants reported as likely pathogenic for Coffin-Siris syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly)	rs1873193008
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
NM_001374828.1(ARID1B):c.1987-29742G>A	rs1554261846
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)	rs773640553
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)	rs1085307695
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)	rs2128634579
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)	rs1289067120
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)	rs2145938426
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs)	rs2103276750
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)	rs1553152590
NM_006015.6(ARID1A):c.4102-1G>C	rs2081113293

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.