ClinVar Miner

List of variants in gene ACAN reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.6534del (p.Thr2179fs) rs1897137506
NM_001369268.1(ACAN):c.6757del (p.Thr2253fs)

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