ClinVar Miner

List of variants reported as pathogenic for Spondyloenchondrodysplasia with immune dysregulation

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Total variants: 14
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NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795
NM_001611.5(ACP5):c.44_65del (p.Leu15fs)
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001611.5(ACP5):c.623_624TG[1] (p.Trp209fs) rs1599634435
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) rs387906669
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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