ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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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.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.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.829G>A (p.Gly277Ser)
NM_001611.5(ACP5):c.846C>G (p.His282Gln)
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)

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