ClinVar Miner

List of variants studied for Spondyloenchondrodysplasia with immune dysregulation

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP
NM_001111035.2(ACP5):c.137G>A (p.Arg46Gln) rs201184983
NM_001111035.2(ACP5):c.14C>T (p.Thr5Met)
NM_001111035.2(ACP5):c.167G>A (p.Arg56Gln)
NM_001111035.2(ACP5):c.238G>A (p.Asp80Asn)
NM_001111035.2(ACP5):c.245A>G (p.Asn82Ser) rs202233676
NM_001111035.2(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001111035.2(ACP5):c.276C>T (p.Asp92=) rs34375794
NM_001111035.2(ACP5):c.290G>A (p.Arg97His)
NM_001111035.2(ACP5):c.325G>A (p.Gly109Arg) rs781050795
NM_001111035.2(ACP5):c.386G>A (p.Arg129His) rs199580546
NM_001111035.2(ACP5):c.469A>G (p.Thr157Ala)
NM_001111035.2(ACP5):c.601C>T (p.Leu201=) rs568957938
NM_001111035.2(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001111035.2(ACP5):c.643G>A (p.Gly215Arg)
NM_001111035.2(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001111035.2(ACP5):c.661G>A (p.Val221Ile) rs2229532
NM_001111035.2(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001111035.2(ACP5):c.693C>T (p.Tyr231=) rs373030121
NM_001111035.2(ACP5):c.738C>A (p.Tyr246Ter) rs761798208
NM_001111035.2(ACP5):c.791T>A (p.Met264Lys) rs387906670
NM_001111035.2(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001111035.2(ACP5):c.855T>C (p.Thr285=) rs77911902
NM_001111035.2(ACP5):c.861C>T (p.Asp287=) rs147115345
NM_001611.4(ACP5):c.772_790del19 (p.Ser258Trpfs) rs878853218
NM_001611.4(ACP5):c.831_833delCTA (p.Tyr278del) rs387906671
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864
NM_001611.5(ACP5):c.816dup (p.Lys273Glnfs) rs879255600

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