ClinVar Miner

List of variants in gene ACP5 reported as pathogenic for Spondyloenchondrodysplasia with immune dysregulation

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Total variants: 5
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HGVS dbSNP
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) rs761798208
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670
NM_001611.5(ACP5):c.816dup (p.Lys273fs) rs879255600
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671

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