ClinVar Miner

List of variants reported as benign for Spondyloenchondrodysplasia with immune dysregulation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001111035.2(ACP5):c.276C>T (p.Asp92=) rs34375794
NM_001111035.2(ACP5):c.601C>T (p.Leu201=) rs568957938
NM_001111035.2(ACP5):c.661G>A (p.Val221Ile) rs2229532
NM_001111035.2(ACP5):c.693C>T (p.Tyr231=) rs373030121
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

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