ClinVar Miner

List of variants in gene ACP5 reported as uncertain significance for autoinflammatory syndrome of childhood

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
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.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.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.80G>A (p.Arg27His) rs376043348 0.00007
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) rs377528244 0.00007
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp) rs765756315 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.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.527G>A (p.Arg176Gln) rs774878498 0.00003
NM_001611.5(ACP5):c.652C>T (p.His218Tyr) rs148656335 0.00003
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys) rs369579418 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.289C>T (p.Arg97Cys) rs1231519014 0.00002
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu) rs776392911 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.334G>A (p.Asp112Asn) rs1252610234 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.542C>A (p.Ala181Asp) rs745457954 0.00001
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr) rs770788576 0.00001
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr) rs1372135711 0.00001
NM_001611.5(ACP5):c.758T>C (p.Val253Ala) rs775386822 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
NM_001611.5(ACP5):c.109G>A (p.Val37Ile)
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala)
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.16G>A (p.Ala6Thr) rs1599637550
NM_001611.5(ACP5):c.188C>T (p.Ala63Val)
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.262-14T>C rs1973181435
NM_001611.5(ACP5):c.262-15_262-12del
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys)
NM_001611.5(ACP5):c.329A>T (p.Asn110Ile)
NM_001611.5(ACP5):c.331C>T (p.His111Tyr) rs1195620494
NM_001611.5(ACP5):c.332A>G (p.His111Arg)
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe) rs763172932
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr)
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys)
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg) rs1243676385
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu) rs2145089685
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys)
NM_001611.5(ACP5):c.418C>T (p.His140Tyr) rs2145089608
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter)
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.517G>A (p.Glu173Lys) rs1973158210
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly)
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn) rs766846705
NM_001611.5(ACP5):c.532G>A (p.Val178Met)
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg) rs371719196
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.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.611G>A (p.Gly204Asp) rs775336126
NM_001611.5(ACP5):c.613C>T (p.His205Tyr)
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys)
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.637G>A (p.Glu213Lys)
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp)
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.731T>C (p.Leu244Pro) rs1453335064
NM_001611.5(ACP5):c.736-3C>T rs773090099
NM_001611.5(ACP5):c.736-7T>A rs766031438
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp)
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.775G>A (p.Gly259Arg) rs2145082240
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.824C>T (p.Pro275Leu) rs1973082559
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.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.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.949A>G (p.Thr317Ala)
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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