ClinVar Miner

List of variants reported as uncertain significance for bone disorder by Institute of Human Genetics, Cologne University

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_001177316.2(SLC34A3):c.1211-3C>A rs1443699350 0.00001
NM_000088.4(COL1A1):c.1984-1G>T rs2144561474
NM_000388.4(CASR):c.1273T>C (p.Tyr425His)
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg) rs1559967708
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn) rs754332943
NM_000388.4(CASR):c.2637C>G (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.516A>T (p.Arg172Ser) rs1114167368
NM_000444.6(PHEX):c.2009A>T (p.Glu670Val) rs2147184651
NM_000918.4(P4HB):c.1199_1200delinsTT (p.Cys400Phe) rs2509949878
NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe) rs2150421317
NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly) rs2112493238
NM_001174147.2(LMX1B):c.139+5G>C rs1114167421
NM_001567.4(INPPL1):c.1108_1155del (p.Ser370_Lys385del) rs1565388201
NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser) rs2063514944
NM_002615.7(SERPINF1):c.727ATG[1] (p.Met244del) rs750464528
NM_006371.5(CRTAP):c.1152+5G>C rs1553617810
NM_019074.4(DLL4):c.1844A>G (p.Tyr615Cys)
NM_024312.5(GNPTAB):c.235T>G (p.Tyr79Asp) rs1566087497
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu) rs1170839204
NM_153365.3(TAPT1):c.323T>G (p.Leu108Trp) rs2532030005
NM_182943.3(PLOD2):c.801C>A (p.Asn267Lys) rs771710305

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.