ClinVar Miner

Variants in gene RSPH4A with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00015
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002

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.