List of variants studied for Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001852.4(COL9A2):c.1323+18T>G	rs186166446	0.00363
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)	rs77937237	0.00051
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	rs373264436	0.00025
NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala)	rs528002132	0.00009
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)	rs184896618	0.00008
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)	rs375476174	0.00006
NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)	rs565855414	0.00006
NM_001852.4(COL9A2):c.1871-8G>T	rs372902486	0.00006
NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala)	rs1202213496	0.00001
NM_001852.4(COL9A2):c.1485del (p.Gly496fs)	rs761748258
NM_001852.4(COL9A2):c.1604-26CTCC[7]	rs3831927
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg)	rs150687987

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.