ClinVar Miner

List of variants studied for Spondyloenchondrodysplasia with immune dysregulation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln) rs201184983
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser)
NM_001611.5(ACP5):c.14C>T (p.Thr5Met)
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr)
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln)
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr)
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn)
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser) rs202233676
NM_001611.5(ACP5):c.276C>T (p.Asp92=) rs34375794
NM_001611.5(ACP5):c.290G>A (p.Arg97His)
NM_001611.5(ACP5):c.316G>A (p.Val106Met)
NM_001611.5(ACP5):c.386G>A (p.Arg129His) rs199580546
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg)
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala) rs1399049173
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys)
NM_001611.5(ACP5):c.601C>T (p.Leu201=) rs568957938
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg)
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532
NM_001611.5(ACP5):c.693C>T (p.Tyr231=) rs373030121
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) rs761798208
NM_001611.5(ACP5):c.766G>C (p.Val256Leu)
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys)
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp)
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser)
NM_001611.5(ACP5):c.846C>G (p.His282Gln)
NM_001611.5(ACP5):c.855T>C (p.Thr285=) rs77911902
NM_001611.5(ACP5):c.861C>T (p.Asp287=) rs147115345
NM_001611.5(ACP5):c.921C>G (p.Ile307Met)
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys)
NM_001611.5(ACP5):c.971G>T (p.Arg324Met)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.