ClinVar Miner

List of variants in gene ACAN reported as benign for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.1809T>C (p.Ala603=) rs1568116 0.98973
NM_001369268.1(ACAN):c.5293A>G (p.Ile1765Val) rs4932439 0.83680
NM_001369268.1(ACAN):c.6423T>C (p.Leu2141=) rs1042631 0.79144
NM_001369268.1(ACAN):c.1623C>A (p.Pro541=) rs2272023 0.77115
NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val) rs1042630 0.71405
NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile) rs938608 0.56082
NM_001369268.1(ACAN):c.757+53T>G rs2293087 0.52913
NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr) rs938609 0.52582
NM_001369268.1(ACAN):c.3637G>A (p.Ala1213Thr) rs11638262 0.50000
NM_001369268.1(ACAN):c.2289C>T (p.Pro763=) rs2351491 0.48499
NM_001369268.1(ACAN):c.3294C>T (p.Thr1098=) rs62023519 0.41213
NM_001369268.1(ACAN):c.7303-110T>G rs16942409 0.38497
NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg) rs1126823 0.37991
NM_001369268.1(ACAN):c.7631-7G>A rs2280465 0.20322
NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) rs3817428 0.20010
NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu) rs3743398 0.15133
NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=) rs530742363 0.13982
NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln) rs34949187 0.11995
NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr) rs35430524 0.07950
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06383
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_001369268.1(ACAN):c.1515G>A (p.Ala505=) rs34957282 0.02963
NM_001369268.1(ACAN):c.1719A>G (p.Val573=) rs57669733 0.02962
NM_001369268.1(ACAN):c.1850G>A (p.Arg617His) rs34616796 0.02960
NM_001369268.1(ACAN):c.1530G>A (p.Pro510=) rs34637731 0.02958
NM_001369268.1(ACAN):c.1866C>T (p.Cys622=) rs35652696 0.02956
NM_001369268.1(ACAN):c.1051+9C>T rs140556803 0.02664
NM_001369268.1(ACAN):c.1051+10G>A rs75524333 0.01573
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) rs35676128 0.01518
NM_001369268.1(ACAN):c.3180C>T (p.Thr1060=) rs113229763 0.01413
NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu) rs201822759 0.01017
NM_001369268.1(ACAN):c.438G>A (p.Leu146=) rs35600223 0.00751
NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) rs139042772 0.00687
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00664
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00490
NM_001369268.1(ACAN):c.2247G>A (p.Val749=) rs137972043 0.00342
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00321
NM_001369268.1(ACAN):c.1398C>T (p.Thr466=) rs185960535 0.00264
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) rs148070768 0.00063
NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) rs200412974 0.00058
NM_001369268.1(ACAN):c.204A>C (p.Pro68=) rs372041880 0.00024
NM_001369268.1(ACAN):c.2037G>A (p.Ala679=) rs372553119 0.00011
NM_001369268.1(ACAN):c.1430-40G>A rs12911138
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) rs144501729
NM_001369268.1(ACAN):c.2514G>A (p.Ser838=) rs3743399
NM_001369268.1(ACAN):c.3009C>T (p.Thr1003=) rs4080952
NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala) rs12899191
NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala) rs2882676
NM_001369268.1(ACAN):c.5799T>G (p.Thr1933=) rs3825994
NM_001369268.1(ACAN):c.6780T>G (p.Ala2260=) rs698621
NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu) rs2141638387
NM_001369268.1(ACAN):c.7499A>G (p.Lys2500Arg) rs2141644827
NM_001369268.1(ACAN):c.758-37del rs11324188

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.