ClinVar Miner

List of variants in gene RSPO1 studied for Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001242908.2(RSPO1):c.-288-413_94+1957del
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9)	rs2148163144
NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr)	rs201499112
NM_001242908.2(RSPO1):c.254del (p.Asp85fs)

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.