List of variants studied for pycnodysostosis by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000396.4(CTSK):c.375A>G (p.Gly125=)	rs766065317	0.00002
NM_000396.4(CTSK):c.158dup (p.Asn53fs)	rs764168526
NM_000396.4(CTSK):c.243+4A>G	rs2101953449
NM_000396.4(CTSK):c.402del (p.Gln135fs)	rs2101951682
NM_000396.4(CTSK):c.431_432del (p.Ser144fs)	rs2101951641
NM_000396.4(CTSK):c.458del (p.Lys153fs)	rs2101951608
NM_000396.4(CTSK):c.556T>C (p.Phe186Leu)	rs2101951483
NM_000396.4(CTSK):c.827A>G (p.His276Arg)	rs2101947647
NM_000396.4(CTSK):c.884A>C (p.Lys295Thr)	rs2101947591
NM_000396.4(CTSK):c.907G>A (p.Gly303Arg)	rs2101946013

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.