ClinVar Miner

List of variants studied for Spondyloenchondrodysplasia with immune dysregulation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_001611.5(ACP5):c.442G>A (p.Val148Met) rs2305799 0.09611
NM_001611.5(ACP5):c.225C>T (p.Phe75=) rs62638747 0.09420
NM_001611.5(ACP5):c.598G>A (p.Val200Met) rs2229531 0.08684
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) rs2229532 0.03835
NM_001611.5(ACP5):c.855T>C (p.Thr285=) rs77911902 0.03530
NM_001611.5(ACP5):c.276C>T (p.Asp92=) rs34375794 0.00599
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_001611.5(ACP5):c.955C>T (p.Leu319=) rs141909893 0.00193
NM_001611.5(ACP5):c.390-11C>G rs182019242 0.00183
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) rs62638748 0.00170
NM_001611.5(ACP5):c.861C>T (p.Asp287=) rs147115345 0.00128
NM_001611.5(ACP5):c.299G>A (p.Arg100His) rs141651325 0.00096
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp) rs199986980 0.00048
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys) rs202169550 0.00047
NM_001611.5(ACP5):c.30G>T (p.Leu10=) rs139654624 0.00022
NM_001611.5(ACP5):c.597C>T (p.Tyr199=) rs750930124 0.00020
NM_001611.5(ACP5):c.601C>T (p.Leu201=) rs568957938 0.00018
NM_001611.5(ACP5):c.316G>A (p.Val106Met) rs148219285 0.00016
NM_001611.5(ACP5):c.17C>T (p.Ala6Val) rs182776939 0.00015
NM_001611.5(ACP5):c.413G>A (p.Arg138His) rs143362935 0.00015
NM_001611.5(ACP5):c.132G>A (p.Thr44=) rs150582430 0.00014
NM_001611.5(ACP5):c.15G>T (p.Thr5=) rs772911511 0.00010
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg) rs374180791 0.00010
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys) rs145265651 0.00010
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser) rs189825826 0.00009
NM_001611.5(ACP5):c.421T>G (p.Phe141Val) rs201716955 0.00009
NM_001611.5(ACP5):c.815G>A (p.Arg272His) rs150107007 0.00009
NM_001611.5(ACP5):c.290G>A (p.Arg97His) rs777140546 0.00008
NM_001611.5(ACP5):c.582G>A (p.Ala194=) rs367699467 0.00007
NM_001611.5(ACP5):c.720C>T (p.His240=) rs374919506 0.00007
NM_001611.5(ACP5):c.80G>A (p.Arg27His) rs376043348 0.00007
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp) rs765756315 0.00006
NM_001611.5(ACP5):c.783G>A (p.Gly261=) rs141519703 0.00006
NM_001611.5(ACP5):c.806G>A (p.Arg269Gln) rs749985898 0.00006
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001611.5(ACP5):c.545G>A (p.Arg182His) rs778805198 0.00005
NM_001611.5(ACP5):c.757G>A (p.Val253Met) rs371116310 0.00005
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln) rs201184983 0.00004
NM_001611.5(ACP5):c.166C>T (p.Arg56Trp) rs371591030 0.00004
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln) rs922892618 0.00004
NM_001611.5(ACP5):c.386G>A (p.Arg129His) rs199580546 0.00004
NM_001611.5(ACP5):c.389+15G>T rs562918956 0.00004
NM_001611.5(ACP5):c.636C>T (p.Ala212=) rs368852148 0.00004
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter) rs146436811 0.00004
NM_001611.5(ACP5):c.973C>T (p.Pro325Ser) rs1024960552 0.00004
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp) rs780116316 0.00003
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn) rs528748445 0.00003
NM_001611.5(ACP5):c.277G>A (p.Val93Ile) rs568576678 0.00003
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
NM_001611.5(ACP5):c.495T>C (p.Asp165=) rs757465602 0.00003
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln) rs774878498 0.00003
NM_001611.5(ACP5):c.621C>T (p.Pro207=) rs372107388 0.00003
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln) rs142179752 0.00003
NM_001611.5(ACP5):c.642C>T (p.His214=) rs748235353 0.00003
NM_001611.5(ACP5):c.652C>T (p.His218Tyr) rs148656335 0.00003
NM_001611.5(ACP5):c.714C>T (p.Cys238=) rs199512530 0.00003
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys) rs369579418 0.00003
NM_001611.5(ACP5):c.828C>T (p.Asn276=) rs371003771 0.00003
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) rs377528244 0.00003
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu) rs563929774 0.00002
NM_001611.5(ACP5):c.261+6T>C rs775396112 0.00002
NM_001611.5(ACP5):c.262-20G>A rs200885075 0.00002
NM_001611.5(ACP5):c.289C>T (p.Arg97Cys) rs1231519014 0.00002
NM_001611.5(ACP5):c.315C>T (p.Tyr105=) rs2229530 0.00002
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu) rs776392911 0.00002
NM_001611.5(ACP5):c.477A>C (p.Thr159=) rs147105591 0.00002
NM_001611.5(ACP5):c.480A>G (p.Leu160=) rs373684791 0.00002
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter) rs1025967277 0.00002
NM_001611.5(ACP5):c.581C>T (p.Ala194Val) rs755385110 0.00002
NM_001611.5(ACP5):c.622G>A (p.Val208Met) rs535257196 0.00002
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser) rs762775321 0.00002
NM_001611.5(ACP5):c.839G>A (p.Arg280His) rs771458690 0.00002
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp) rs913182619 0.00002
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser) rs375523195 0.00002
NM_001611.5(ACP5):c.959C>T (p.Pro320Leu) rs745604493 0.00002
NM_001611.5(ACP5):c.14C>T (p.Thr5Met) rs556637113 0.00001
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr) rs529545521 0.00001
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser) rs202233676 0.00001
NM_001611.5(ACP5):c.262-15A>G rs200250079 0.00001
NM_001611.5(ACP5):c.279A>G (p.Val93=) rs1351504233 0.00001
NM_001611.5(ACP5):c.327A>G (p.Gly109=) rs1973176548 0.00001
NM_001611.5(ACP5):c.334G>A (p.Asp112Asn) rs1252610234 0.00001
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter) rs747619825 0.00001
NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter) rs1171155255 0.00001
NM_001611.5(ACP5):c.383A>G (p.Lys128Arg) rs750563102 0.00001
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys) rs767853623 0.00001
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys) rs760044774 0.00001
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala) rs1399049173 0.00001
NM_001611.5(ACP5):c.47C>A (p.Pro16His) rs201047202 0.00001
NM_001611.5(ACP5):c.522G>A (p.Arg174=) rs376767095 0.00001
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp) rs745457954 0.00001
NM_001611.5(ACP5):c.579G>A (p.Ala193=) rs752926629 0.00001
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr) rs770788576 0.00001
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) rs781199182 0.00001
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr) rs1372135711 0.00001
NM_001611.5(ACP5):c.693C>T (p.Tyr231=) rs373030121 0.00001
NM_001611.5(ACP5):c.735+18G>A rs1413963470 0.00001
NM_001611.5(ACP5):c.735+7G>T rs1484884500 0.00001
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) rs761798208 0.00001
NM_001611.5(ACP5):c.756C>T (p.Gly252=) rs139096747 0.00001
NM_001611.5(ACP5):c.758T>C (p.Val253Ala) rs775386822 0.00001
NM_001611.5(ACP5):c.765C>T (p.Tyr255=) rs549955384 0.00001
NM_001611.5(ACP5):c.777G>T (p.Gly259=) rs368442469 0.00001
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) rs387906670 0.00001
NM_001611.5(ACP5):c.799del (p.Ser267fs) rs1294990891 0.00001
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) rs387906671 0.00001
NM_001611.5(ACP5):c.832T>C (p.Tyr278His) rs1248410622 0.00001
NM_001611.5(ACP5):c.854C>T (p.Thr285Ile) rs1369048725 0.00001
NM_001611.5(ACP5):c.91G>A (p.Val31Met) rs765947561 0.00001
NC_000019.10:g.(?_11574990)_(11577337_?)dup
NC_000019.9:g.(?_11685805)_(11688152_?)del
NC_000019.9:g.(?_11685825)_(11688132_?)del
NM_001611.5(ACP5):c.109G>A (p.Val37Ile)
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)
NM_001611.5(ACP5):c.132G>C (p.Thr44=)
NM_001611.5(ACP5):c.136del (p.Arg46fs) rs2145093044
NM_001611.5(ACP5):c.13A>G (p.Thr5Ala) rs2145093839
NM_001611.5(ACP5):c.144G>A (p.Met48Ile)
NM_001611.5(ACP5):c.152C>A (p.Ala51Asp)
NM_001611.5(ACP5):c.15G>A (p.Thr5=) rs772911511
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr) rs1599637550
NM_001611.5(ACP5):c.188C>T (p.Ala63Val)
NM_001611.5(ACP5):c.18G>A (p.Ala6=)
NM_001611.5(ACP5):c.191A>G (p.Asp64Gly) rs765370739
NM_001611.5(ACP5):c.1A>G (p.Met1Val) rs2145093934
NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter) rs965741395
NM_001611.5(ACP5):c.257del (p.Phe86fs) rs2145092503
NM_001611.5(ACP5):c.259del (p.Gln87fs) rs2145092472
NM_001611.5(ACP5):c.261+13C>T
NM_001611.5(ACP5):c.261+14A>T
NM_001611.5(ACP5):c.262-13_262-12del
NM_001611.5(ACP5):c.262-14T>C rs1973181435
NM_001611.5(ACP5):c.262-15_262-12del
NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) rs387906668
NM_001611.5(ACP5):c.266_272del (p.Thr89fs) rs2145091349
NM_001611.5(ACP5):c.28C>T (p.Leu10=)
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)
NM_001611.5(ACP5):c.309C>T (p.Pro103=)
NM_001611.5(ACP5):c.324C>T (p.Ala108=)
NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)
NM_001611.5(ACP5):c.330C>T (p.Asn110=) rs2145090965
NM_001611.5(ACP5):c.331C>T (p.His111Tyr) rs1195620494
NM_001611.5(ACP5):c.332A>G (p.His111Arg)
NM_001611.5(ACP5):c.333T>C (p.His111=)
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe) rs763172932
NM_001611.5(ACP5):c.351C>A (p.Val117=)
NM_001611.5(ACP5):c.351C>T (p.Val117=) rs2145090791
NM_001611.5(ACP5):c.354T>C (p.Ser118=) rs1337015672
NM_001611.5(ACP5):c.361del (p.Ile121fs) rs749753832
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)
NM_001611.5(ACP5):c.366A>C (p.Ala122=)
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs)
NM_001611.5(ACP5):c.372dup (p.Lys125Ter)
NM_001611.5(ACP5):c.381C>T (p.Ser127=) rs2145090669
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)
NM_001611.5(ACP5):c.389+13C>T
NM_001611.5(ACP5):c.389+17C>T
NM_001611.5(ACP5):c.389+9C>T
NM_001611.5(ACP5):c.390-11C>T rs182019242
NM_001611.5(ACP5):c.390-17C>T
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg) rs1243676385
NM_001611.5(ACP5):c.39G>A (p.Leu13=)
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu) rs2145089685
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)
NM_001611.5(ACP5):c.417G>A (p.Leu139=) rs2145089622
NM_001611.5(ACP5):c.418C>T (p.His140Tyr) rs2145089608
NM_001611.5(ACP5):c.420C>T (p.His140=) rs1281816540
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)
NM_001611.5(ACP5):c.438C>T (p.Thr146=) rs2145089524
NM_001611.5(ACP5):c.44_65del (p.Leu15fs) rs1973203506
NM_001611.5(ACP5):c.459T>C (p.Phe153=)
NM_001611.5(ACP5):c.46C>A (p.Pro16Thr) rs2145093640
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser) rs764197394
NM_001611.5(ACP5):c.510G>A (p.Gln170=)
NM_001611.5(ACP5):c.516T>A (p.Pro172=) rs887425978
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys) rs1973158210
NM_001611.5(ACP5):c.51C>A (p.Ser17=)
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)
NM_001611.5(ACP5):c.526del (p.Arg176fs) rs2145089035
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn) rs766846705
NM_001611.5(ACP5):c.531C>T (p.Asp177=)
NM_001611.5(ACP5):c.532G>A (p.Val178Met)
NM_001611.5(ACP5):c.543C>A (p.Ala181=) rs139822120
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg) rs371719196
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter)
NM_001611.5(ACP5):c.567G>T (p.Lys189Asn)
NM_001611.5(ACP5):c.56C>T (p.Ala19Val)
NM_001611.5(ACP5):c.570A>T (p.Lys190Asn)
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu) rs756201795
NM_001611.5(ACP5):c.578C>T (p.Ala193Val)
NM_001611.5(ACP5):c.583G>A (p.Ala195Thr)
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly)
NM_001611.5(ACP5):c.585C>G (p.Ala195=) rs766688951
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys) rs1599634603
NM_001611.5(ACP5):c.5A>C (p.Asp2Ala)
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) rs387906672
NM_001611.5(ACP5):c.604G>C (p.Val202Leu) rs1188745377
NM_001611.5(ACP5):c.60T>C (p.Asp20=)
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp) rs775336126
NM_001611.5(ACP5):c.612C>A (p.Gly204=)
NM_001611.5(ACP5):c.613C>T (p.His205Tyr)
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr) rs1973150471
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg) rs757630659
NM_001611.5(ACP5):c.622G>C (p.Val208Leu)
NM_001611.5(ACP5):c.622G>T (p.Val208Leu)
NM_001611.5(ACP5):c.625_626del (p.Trp209fs) rs1599634435
NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs)
NM_001611.5(ACP5):c.637G>A (p.Glu213Lys)
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) rs781199182
NM_001611.5(ACP5):c.651C>A (p.Thr217=)
NM_001611.5(ACP5):c.654_658del (p.Cys219fs)
NM_001611.5(ACP5):c.658C>T (p.Leu220=)
NM_001611.5(ACP5):c.660G>C (p.Leu220=) rs1433238601
NM_001611.5(ACP5):c.663C>G (p.Val221=) rs2145088053
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) rs387906669
NM_001611.5(ACP5):c.670C>T (p.Leu224=)
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)
NM_001611.5(ACP5):c.678A>C (p.Pro226=) rs1257952148
NM_001611.5(ACP5):c.682C>G (p.Leu228Val) rs142623076
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile) rs939236666
NM_001611.5(ACP5):c.69C>T (p.Thr23=)
NM_001611.5(ACP5):c.702T>G (p.Thr234=)
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del)
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg) rs2145087756
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn) rs2145087630
NM_001611.5(ACP5):c.730C>T (p.Leu244=)
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro) rs1453335064
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter) rs1973142593
NM_001611.5(ACP5):c.735+10del
NM_001611.5(ACP5):c.735+13T>A
NM_001611.5(ACP5):c.735+14G>A
NM_001611.5(ACP5):c.735+15G>C
NM_001611.5(ACP5):c.735+8C>A
NM_001611.5(ACP5):c.735+8C>T rs781252304
NM_001611.5(ACP5):c.736-2A>G rs1973089024
NM_001611.5(ACP5):c.736-3C>T rs773090099
NM_001611.5(ACP5):c.736-6C>T
NM_001611.5(ACP5):c.736-7T>A rs766031438
NM_001611.5(ACP5):c.738C>T (p.Tyr246=)
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)
NM_001611.5(ACP5):c.759G>A (p.Val253=)
NM_001611.5(ACP5):c.766G>A (p.Val256Met) rs146196342
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.775G>A (p.Gly259Arg) rs2145082240
NM_001611.5(ACP5):c.780T>C (p.Ala260=) rs2145082207
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp) rs2145082191
NM_001611.5(ACP5):c.802A>G (p.Lys268Glu)
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn) rs1973084550
NM_001611.5(ACP5):c.807G>A (p.Arg269=)
NM_001611.5(ACP5):c.816dup (p.Lys273fs) rs879255600
NM_001611.5(ACP5):c.822C>G (p.Val274=)
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu) rs1973082559
NM_001611.5(ACP5):c.825C>A (p.Pro275=) rs760569679
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys) rs774428695
NM_001611.5(ACP5):c.846C>G (p.His282Gln) rs749645391
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys) rs931778512
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu) rs1973079948
NM_001611.5(ACP5):c.85G>A (p.Val29Ile) rs1297907616
NM_001611.5(ACP5):c.870T>C (p.Gly290=)
NM_001611.5(ACP5):c.871G>C (p.Gly291Arg) rs752091275
NM_001611.5(ACP5):c.8T>C (p.Met3Thr)
NM_001611.5(ACP5):c.902A>G (p.Glu301Gly)
NM_001611.5(ACP5):c.909T>C (p.Thr303=) rs2145081214
NM_001611.5(ACP5):c.90C>T (p.Ala30=)
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile) rs2145081185
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe) rs1483232010
NM_001611.5(ACP5):c.920T>A (p.Ile307Asn)
NM_001611.5(ACP5):c.921C>G (p.Ile307Met) rs763811862
NM_001611.5(ACP5):c.922G>A (p.Glu308Lys)
NM_001611.5(ACP5):c.930G>A (p.Ser310=)
NM_001611.5(ACP5):c.949A>G (p.Thr317Ala)
NM_001611.5(ACP5):c.954G>A (p.Arg318=)
NM_001611.5(ACP5):c.960G>A (p.Pro320=)
NM_001611.5(ACP5):c.963G>A (p.Arg321=) rs2145080770
NM_001611.5(ACP5):c.964C>G (p.Arg322Gly) rs146436811
NM_001611.5(ACP5):c.965G>A (p.Arg322Gln) rs149133430
NM_001611.5(ACP5):c.970A>G (p.Arg324Gly)
NM_001611.5(ACP5):c.971G>T (p.Arg324Met) rs145265651
NM_001611.5(ACP5):c.976T>C (p.Ter326Arg)
NM_001611.5(ACP5):c.97G>A (p.Asp33Asn) rs2145093288

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