List of variants in gene ACAN reported as benign for Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val)	rs1042630	0.70861
NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile)	rs938608	0.55508
NM_001369268.1(ACAN):c.757+53T>G	rs2293087	0.52913
NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr)	rs938609	0.51872
NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu)	rs3743398	0.14751
NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=)	rs530742363	0.13982
NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr)	rs35430524	0.08274
NM_001369268.1(ACAN):c.1221C>T (p.Val407=)	rs16942341	0.06206
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu)	rs16942318	0.04874
NM_001369268.1(ACAN):c.1051+9C>T	rs140556803	0.03259
NM_001369268.1(ACAN):c.1850G>A (p.Arg617His)	rs34616796	0.02960
NM_001369268.1(ACAN):c.1515G>A (p.Ala505=)	rs34957282	0.02765
NM_001369268.1(ACAN):c.1719A>G (p.Val573=)	rs57669733	0.02762
NM_001369268.1(ACAN):c.1530G>A (p.Pro510=)	rs34637731	0.02759
NM_001369268.1(ACAN):c.1866C>T (p.Cys622=)	rs35652696	0.02757
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	0.00980
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu)	rs117116488	0.00742
NM_001369268.1(ACAN):c.1476C>G (p.Thr492=)	rs139042772	0.00741
NM_001369268.1(ACAN):c.438G>A (p.Leu146=)	rs35600223	0.00715
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu)	rs181736584	0.00476
NM_001369268.1(ACAN):c.2247G>A (p.Val749=)	rs137972043	0.00364
NM_001369268.1(ACAN):c.186C>T (p.Thr62=)	rs191648646	0.00295
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	0.00022
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser)	rs144501729
NM_001369268.1(ACAN):c.2972A>G (p.Asp991Gly)
NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala)	rs12899191
NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu)	rs2141638387
NM_001369268.1(ACAN):c.7499A>G (p.Lys2500Arg)	rs2141644827

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