List of variants reported as pathogenic by Human Genetics Unit, University Of Colombo

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000038.6(APC):c.2798_2804del (p.Asn933fs)	rs2149877627
NM_000059.4(BRCA2):c.5727_5728insG (p.Asn1910fs)	rs1593906350
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys)	rs121918502
NM_000179.3(MSH6):c.3646+1G>A	rs1553332772
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)	rs202040269
NM_001126108.2(SLC12A3):c.1276A>T (p.Asn426Tyr)	rs200817545
NM_001370259.2(MEN1):c.1350+1G>C	rs863223311
NM_006031.6(PCNT):c.5059_5060del (p.Asn1687fs)	rs2147504920

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.