ClinVar Miner

List of variants studied for chromosome 10 disorder by New York Genome Center

Included ClinVar conditions (8):

Chromosome 10q23 deletion syndrome
DeSanto-Shinawi syndrome due to WAC point mutation
DeSanto-Shinawi syndrome due to WAC point mutation; DeSanto-Shinawi syndrome
Distal 10q deletion syndrome
Distal monosomy 10p
Distal trisomy 10q
Hypoparathyroidism, deafness, renal disease syndrome
Split hand-foot malformation 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)	rs1841460217
NM_016628.5(WAC):c.275-22319G>T	rs2132485043
NM_016628.5(WAC):c.472dup (p.Glu158fs)	rs2132669368

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.