ClinVar Miner

List of variants in gene SDCCAG8 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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.1717C>T (p.Gln573Ter) rs1286714661 0.00001
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947 0.00001
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031 0.00001
NC_000001.11:g.(?_243415682)_(243415849_?)del
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.1159del (p.Ala387fs) rs778900414
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
NM_006642.5(SDCCAG8):c.1324dup (p.Gln442fs) rs747911477
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs) rs387906218
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) rs587777846
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter) rs1573920009
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter) rs2080721288
NM_006642.5(SDCCAG8):c.1946_1949del (p.Cys649fs) rs397515336
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter) rs756518004
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs) rs2149263988
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter) rs201658593
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) rs768207230
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) rs1558264626
NM_006642.5(SDCCAG8):c.741-152G>A rs2072310236
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338

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.