ClinVar Miner

List of variants in gene SGCB reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.92G>T (p.Ser31Ile) rs115928999 0.00262
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00010
NM_000232.5(SGCB):c.204G>T (p.Val68=) rs1560568801 0.00001
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.374G>A (p.Ser125Asn) rs1560567674
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.753+10_753+12del rs138604476
NM_000232.5(SGCB):c.809G>A (p.Ser270Asn)

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.