ClinVar Miner

List of variants in gene ACAN reported by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.955G>A (p.Gly319Ser) rs1044441746 0.00001
NM_001369268.1(ACAN):c.37del (p.Val13fs) rs1596128744
NM_001369268.1(ACAN):c.600C>G (p.Asp200Glu) rs550550807
NM_001369268.1(ACAN):c.613_616dup (p.Asp206delinsGlyTer) rs2141567062
NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr) rs1596148604

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