List of variants reported as uncertain significance for Coffin-Siris syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln)	rs751391187	0.00003
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg)	rs1401971317	0.00002
NM_001374828.1(ARID1B):c.1987-10T>G	rs1276255111	0.00001
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val)	rs752961325	0.00001
NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser)	rs1876933164
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser)	rs1349412123
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg)	rs1453138221
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys)	rs1340183572
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val)	rs1794104878
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe)	rs1794548648
NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del)	rs1171444727
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)	rs375761808
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del)	rs2081176133
NM_006268.5(DPF2):c.364C>G (p.Leu122Val)	rs1854369385

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.