List of variants reported as likely pathogenic by Laboratory of Functional Genomics, Research Centre for Medical Genetics

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003052.5(SLC34A1):c.1449G>A (p.Ser483=)	rs561557630	0.00012
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)	rs121918236	0.00004
NM_000320.3(QDPR):c.106T>G (p.Trp36Gly)
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
NM_001267550.2(TTN):c.106773_106780del (p.Glu35591fs)
NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)
NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val)	rs2147128410
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs)
NM_001844.5(COL2A1):c.491dup (p.Gly165fs)	rs1592235241
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
NM_024577.4(SH3TC2):c.1177+5G>A	rs1561765688

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.