List of variants in gene SDCCAG8 reported as likely pathogenic for ciliopathy

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: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)	rs772544112	0.00006
NM_006642.5(SDCCAG8):c.740+356C>T	rs397515337	0.00006
NM_006642.5(SDCCAG8):c.1985+1G>T	rs752046196	0.00003
NM_006642.5(SDCCAG8):c.220+2T>C	rs757796329	0.00003
NM_006642.5(SDCCAG8):c.1745-2A>G	rs1442457872	0.00002
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)	rs367572249	0.00001
NM_006642.5(SDCCAG8):c.307-1G>A	rs1460888769	0.00001
NM_006642.5(SDCCAG8):c.546+1G>A	rs756907665	0.00001
NM_006642.5(SDCCAG8):c.675+1G>A	rs1022080658	0.00001
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
NM_006642.3:c.1069_1356del
NM_006642.5(SDCCAG8):c.1068+1G>A
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)	rs770084716
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)	rs964673995
NM_006642.5(SDCCAG8):c.1356+1G>C	rs2147782314
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)	rs397515335
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)	rs1390963789
NM_006642.5(SDCCAG8):c.1617-1G>A
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
NM_006642.5(SDCCAG8):c.1853+1G>A	rs1573930690
NM_006642.5(SDCCAG8):c.1853+2T>A
NM_006642.5(SDCCAG8):c.1853+2T>C
NM_006642.5(SDCCAG8):c.221-1G>A	rs2068036602
NM_006642.5(SDCCAG8):c.420+1G>C
NM_006642.5(SDCCAG8):c.547-1G>A	rs2070433656
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)	rs797045948
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)

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.