ClinVar Miner

List of variants studied for Spondyloenchondrodysplasia with immune dysregulation

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Total variants: 79
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HGVS dbSNP
NC_000019.10:g.(?_11574990)_(11577337_?)dup
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864
NM_001611.5(ACP5):c.132G>A (p.Thr44=) rs150582430
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln) rs201184983
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser) rs189825826
NM_001611.5(ACP5):c.14C>T (p.Thr5Met) rs556637113
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr) rs529545521
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln) rs922892618
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr) rs1599637550
NM_001611.5(ACP5):c.17C>T (p.Ala6Val)
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn) rs528748445
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser) rs202233676
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu)
NM_001611.5(ACP5):c.261+6T>C
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001611.5(ACP5):c.276C>T (p.Asp92=) rs34375794
NM_001611.5(ACP5):c.277G>A (p.Val93Ile)
NM_001611.5(ACP5):c.290G>A (p.Arg97His) rs777140546
NM_001611.5(ACP5):c.299G>A (p.Arg100His) rs141651325
NM_001611.5(ACP5):c.30G>T (p.Leu10=) rs139654624
NM_001611.5(ACP5):c.316G>A (p.Val106Met) rs148219285
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795
NM_001611.5(ACP5):c.386G>A (p.Arg129His) rs199580546
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg) rs1243676385
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys)
NM_001611.5(ACP5):c.44_65del (p.Leu15fs)
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala) rs1399049173
NM_001611.5(ACP5):c.495T>C (p.Asp165=) rs757465602
NM_001611.5(ACP5):c.516T>A (p.Pro172=) rs887425978
NM_001611.5(ACP5):c.522G>A (p.Arg174=) rs376767095
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn)
NM_001611.5(ACP5):c.543C>A (p.Ala181=) rs139822120
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys)
NM_001611.5(ACP5):c.545G>A (p.Arg182His)
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu)
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys) rs1599634603
NM_001611.5(ACP5):c.601C>T (p.Leu201=) rs568957938
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg)
NM_001611.5(ACP5):c.623_624TG[1] (p.Trp209fs) rs1599634435
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr)
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln) rs142179752
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr)
NM_001611.5(ACP5):c.652C>T (p.His218Tyr)
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp)
NM_001611.5(ACP5):c.693C>T (p.Tyr231=) rs373030121
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg)
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser)
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro)
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) rs761798208
NM_001611.5(ACP5):c.757G>A (p.Val253Met)
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) rs146196342
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys) rs369579418
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp) rs199986980
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001611.5(ACP5):c.815G>A (p.Arg272His)
NM_001611.5(ACP5):c.816dup (p.Lys273fs) rs879255600
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu)
NM_001611.5(ACP5):c.828C>T (p.Asn276=) rs371003771
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) rs377528244
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys)
NM_001611.5(ACP5):c.846C>G (p.His282Gln) rs749645391
NM_001611.5(ACP5):c.855T>C (p.Thr285=) rs77911902
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) rs62638748
NM_001611.5(ACP5):c.861C>T (p.Asp287=) rs147115345
NM_001611.5(ACP5):c.91G>A (p.Val31Met)
NM_001611.5(ACP5):c.921C>G (p.Ile307Met) rs763811862
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser)
NM_001611.5(ACP5):c.955C>T (p.Leu319=) rs141909893
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter)
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys) rs145265651
NM_001611.5(ACP5):c.971G>T (p.Arg324Met) rs145265651

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