ClinVar Miner

List of variants in gene COMP reported as uncertain significance for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000095.3(COMP):c.700C>T (p.Pro234Ser) rs557483957 0.00024
NM_000095.3(COMP):c.868-4C>T rs529806631 0.00019
NM_000095.3(COMP):c.-15C>T rs374273743 0.00010
NM_000095.3(COMP):c.1894G>A (p.Glu632Lys) rs144170209 0.00010
NM_000095.3(COMP):c.2213G>A (p.Arg738His) rs766913050 0.00009
NM_000095.3(COMP):c.11A>C (p.Asp4Ala) rs370458957 0.00007
NM_000095.3(COMP):c.1979C>G (p.Thr660Arg) rs150534218 0.00007
NM_000095.3(COMP):c.87C>T (p.Asp29=) rs759794906 0.00006
NM_000095.3(COMP):c.1803T>C (p.Phe601=) rs753120962 0.00004
NM_000095.3(COMP):c.763-6C>G rs886054303 0.00004
NM_000095.3(COMP):c.968A>G (p.Asn323Ser) rs367812050 0.00004
NM_000095.3(COMP):c.1200C>T (p.Gly400=) rs201063220 0.00003
NM_000095.3(COMP):c.1590C>A (p.Asp530Glu) rs759687021 0.00003
NM_000095.3(COMP):c.566A>G (p.His189Arg) rs199792797 0.00003
NM_000095.3(COMP):c.643G>C (p.Gly215Arg) rs768437153 0.00003
NM_000095.3(COMP):c.867+11G>A rs776412620 0.00003
NM_000095.3(COMP):c.217+15G>A rs1439169186 0.00001
NM_000095.3(COMP):c.235C>A (p.Arg79Ser) rs768907479 0.00001
NM_000095.3(COMP):c.314C>A (p.Thr105Lys) rs1377001812 0.00001
NM_000095.3(COMP):c.377C>T (p.Thr126Ile) rs886054305 0.00001
NM_000095.3(COMP):c.850G>A (p.Glu284Lys) rs145895692 0.00001
NM_000095.3(COMP):c.*111A>G rs886054301
NM_000095.3(COMP):c.1285_1286dup (p.Cys430fs)
NM_000095.3(COMP):c.1406A>T (p.Asp469Val) rs766950514
NM_000095.3(COMP):c.1454G>A (p.Arg485His) rs2055164177
NM_000095.3(COMP):c.1489+2T>A rs1131692038
NM_000095.3(COMP):c.1621C>G (p.Pro541Ala) rs1451255197
NM_000095.3(COMP):c.165+9C>A rs886054306
NM_000095.3(COMP):c.1836C>G (p.Val612=) rs886054302
NM_000095.3(COMP):c.1993C>A (p.Arg665=) rs370202476
NM_000095.3(COMP):c.2048G>A (p.Arg683His) rs565459602
NM_000095.3(COMP):c.2092C>T (p.Arg698Ter) rs763098832
NM_000095.3(COMP):c.2150T>G (p.Met717Arg) rs1601049483
NM_000095.3(COMP):c.218-13C>A rs1225414726
NM_000095.3(COMP):c.218-14C>A rs150008764
NM_000095.3(COMP):c.218-14C>G rs150008764
NM_000095.3(COMP):c.314C>T (p.Thr105Met) rs1377001812
NM_000095.3(COMP):c.327G>T (p.Ala109=) rs2055200293
NM_000095.3(COMP):c.345C>G (p.Pro115=) rs2055200093
NM_000095.3(COMP):c.381C>T (p.Asp127=) rs2055199653
NM_000095.3(COMP):c.582C>G (p.Asn194Lys) rs1352615165
NM_000095.3(COMP):c.595A>G (p.Asn199Asp) rs2145903787
NM_000095.3(COMP):c.620G>A (p.Gly207Asp) rs886054304
NM_000095.3(COMP):c.69G>A (p.Gln23=) rs886054307
NM_000095.3(COMP):c.805G>A (p.Asp269Asn) rs2145903436
NM_000095.3(COMP):c.862C>A (p.Arg288Ser) rs762455276

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.