ClinVar Miner

List of variants in gene ACAN reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr) rs938609 0.52582
NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg) rs1126823 0.37991
NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) rs3817428 0.20010
NM_001369268.1(ACAN):c.4864A>G (p.Thr1622Ala) rs28407189 0.07459
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.1051+9C>T rs140556803 0.02664
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) rs35676128 0.01518
NM_001369268.1(ACAN):c.5800G>C (p.Val1934Leu) rs76282091 0.01498
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.230G>A (p.Arg77His) rs199701329 0.00147
NM_001369268.1(ACAN):c.582C>T (p.Asp194=) rs375544241 0.00071
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) rs148070768 0.00063
NM_001369268.1(ACAN):c.204A>C (p.Pro68=) rs372041880 0.00024
NM_001369268.1(ACAN):c.1575C>T (p.Asp525=) rs367724066
NM_001369268.1(ACAN):c.7197C>T (p.Pro2399=) rs35446117

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