ClinVar Miner

List of variants studied for bone development disease by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.586C>T (p.Gln196Ter) rs1131692171 0.00001
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) rs1555791556
NM_000095.3(COMP):c.1489+2T>A rs1131692038
NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn) rs1555454545
NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro) rs772017351
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) rs1554095568
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_015909.4(NBAS):c.2065T>C (p.Leu689=) rs1131692172
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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.