ClinVar Miner

List of variants in gene COL9A3 studied for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001853.4(COL9A3):c.1740T>C (p.Pro580=) rs2294995 0.75903
NM_001853.4(COL9A3):c.1008+10C>T rs6062700 0.56099
NM_001853.4(COL9A3):c.1288-5T>C rs741758 0.38028
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) rs751557 0.25404
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_001853.4(COL9A3):c.909G>A (p.Pro303=) rs2249903 0.12661
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078 0.11502
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001853.4(COL9A3):c.309+11G>A rs146033082 0.00541
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=) rs34911725 0.00408
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 0.00096
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_001853.4(COL9A3):c.346-19C>T rs199940406 0.00029
NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn) rs149805455 0.00010
NM_001853.4(COL9A3):c.1906G>A (p.Gly636Ser) rs34990115 0.00006
NM_001853.4(COL9A3):c.753C>G (p.Phe251Leu) rs376779544 0.00006
NM_001853.4(COL9A3):c.1150C>T (p.Arg384Trp) rs112769858 0.00004
NM_001853.4(COL9A3):c.1851C>A (p.Asp617Glu) rs199577452 0.00004
NM_001853.4(COL9A3):c.218C>T (p.Pro73Leu) rs768298010 0.00004
NM_001853.4(COL9A3):c.387C>T (p.Ser129=) rs529110098 0.00003
NM_001853.4(COL9A3):c.1747C>T (p.Arg583Cys) rs778892188 0.00002
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter) rs763259234 0.00002
NM_001853.4(COL9A3):c.577-20G>A rs928285792 0.00002
NM_001853.4(COL9A3):c.800G>A (p.Arg267Gln) rs749822735 0.00002
NM_001853.4(COL9A3):c.1102G>A (p.Val368Ile) rs531144768 0.00001
NM_001853.4(COL9A3):c.505G>A (p.Ala169Thr) rs948698664 0.00001
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) rs1422176468 0.00001
NM_001853.4(COL9A3):c.107_116del (p.Pro36fs) rs1470627424
NM_001853.4(COL9A3):c.1176_1198del (p.Gln393fs) rs606231470
NM_001853.4(COL9A3):c.1189G>A (p.Gly397Arg)
NM_001853.4(COL9A3):c.1204C>T (p.Arg402Ter)
NM_001853.4(COL9A3):c.1215+6T>A
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) rs1555824129
NM_001853.4(COL9A3):c.148-1G>A rs606231367
NM_001853.4(COL9A3):c.148-2A>G
NM_001853.4(COL9A3):c.148-2A>T rs1600786629
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001853.4(COL9A3):c.1775C>T (p.Pro592Leu) rs1432126169
NM_001853.4(COL9A3):c.183+2T>C rs2147195552
NM_001853.4(COL9A3):c.183+4A>C rs1555821817
NM_001853.4(COL9A3):c.183+5G>A rs1600786748
NM_001853.4(COL9A3):c.184-2A>G rs1991037713
NM_001853.4(COL9A3):c.1928C>T (p.Pro643Leu) rs2147235760
NM_001853.4(COL9A3):c.2034_2037dup (p.Gly680fs) rs1190301717
NM_001853.4(COL9A3):c.240_248del (p.78LPG[1]) rs758517077
NM_001853.4(COL9A3):c.355del (p.Leu119fs)
NM_001853.4(COL9A3):c.369+2T>C rs1057518693
NM_001853.4(COL9A3):c.397G>A (p.Gly133Ser) rs2063514944
NM_001853.4(COL9A3):c.433G>T (p.Gly145Ter)
NM_001853.4(COL9A3):c.647dup (p.Gly217fs) rs2147208658
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter) rs1027769042
NM_001853.4(COL9A3):c.792+19G>A rs115466848
NM_001853.4(COL9A3):c.883G>A (p.Gly295Arg)

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.