ClinVar Miner

List of variants in gene combination ACP5, ZNF627 reported as pathogenic for Spondyloenchondrodysplasia with immune dysregulation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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NM_001111035.2(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001111035.2(ACP5):c.325G>A (p.Gly109Arg) rs781050795
NM_001111035.2(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001111035.2(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001111035.2(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864

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