List of variants studied for bone development disease by Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province

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_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp)	rs886061315	0.00001
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser)	rs1907516553
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	rs67507747
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)	rs67368147
NM_000088.4(COL1A1):c.3977T>G (p.Phe1326Cys)
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)	rs121913479
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	rs121913485
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	rs28931614
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)	rs28933068
NM_001429.4(EP300):c.5527dup (p.Gln1843fs)

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.