ClinVar Miner

List of variants reported as uncertain significance for Microcephaly 5, primary, autosomal recessive by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00824
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro) rs142536561 0.00150
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=) rs147100928 0.00061
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00049
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00043
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_018136.5(ASPM):c.*82G>A rs775183015 0.00035
NM_018136.5(ASPM):c.1467A>G (p.Arg489=) rs146561469 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) rs137890991 0.00030
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00027
NM_018136.5(ASPM):c.2043G>A (p.Pro681=) rs147526389 0.00026
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) rs139317695 0.00026
NM_018136.5(ASPM):c.1921+13T>G rs41304245 0.00025
NM_018136.5(ASPM):c.5818C>G (p.Gln1940Glu) rs142378871 0.00023
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) rs147466865 0.00021
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00021
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr) rs200856894 0.00021
NM_018136.5(ASPM):c.676C>T (p.Pro226Ser) rs147830520 0.00020
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) rs146959075 0.00019
NM_018136.5(ASPM):c.*61G>A rs111463579 0.00018
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_018136.5(ASPM):c.10416G>A (p.Thr3472=) rs150108952 0.00016
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr) rs189918817 0.00016
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=) rs587783246 0.00016
NM_018136.5(ASPM):c.7179T>A (p.Ala2393=) rs117668001 0.00016
NM_018136.5(ASPM):c.81C>A (p.Pro27=) rs369801034 0.00016
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe) rs560847421 0.00014
NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala) rs141348662 0.00014
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg) rs201679731 0.00011
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.4053A>C (p.Ala1351=) rs147209201 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser) rs147839989 0.00010
NM_018136.5(ASPM):c.9246T>C (p.Ser3082=) rs201050851 0.00010
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00009
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) rs148338547 0.00009
NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val) rs150906798 0.00009
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser) rs145645602 0.00008
NM_018136.5(ASPM):c.135C>T (p.Cys45=) rs200874183 0.00007
NM_018136.5(ASPM):c.2419+6A>T rs202002135 0.00007
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln) rs200848981 0.00007
NM_018136.5(ASPM):c.10261C>A (p.Gln3421Lys) rs201191528 0.00006
NM_018136.5(ASPM):c.1184A>G (p.Gln395Arg) rs147820821 0.00006
NM_018136.5(ASPM):c.2640A>G (p.Glu880=) rs144908700 0.00006
NM_018136.5(ASPM):c.3955G>T (p.Ala1319Ser) rs376541100 0.00006
NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr) rs200800956 0.00006
NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln) rs747515767 0.00006
NM_018136.5(ASPM):c.9932C>T (p.Pro3311Leu) rs886045761 0.00006
NM_018136.5(ASPM):c.2532C>T (p.Val844=) rs141716537 0.00005
NM_018136.5(ASPM):c.3804A>G (p.Arg1268=) rs142766262 0.00005
NM_018136.5(ASPM):c.3886G>C (p.Ala1296Pro) rs373469406 0.00005
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp) rs370907931 0.00005
NM_018136.5(ASPM):c.10006G>A (p.Val3336Ile) rs951343801 0.00004
NM_018136.5(ASPM):c.10279A>G (p.Ile3427Val) rs886045758 0.00004
NM_018136.5(ASPM):c.1681G>A (p.Glu561Lys) rs763648822 0.00004
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.4457A>G (p.Tyr1486Cys) rs368020945 0.00004
NM_018136.5(ASPM):c.6046T>C (p.Leu2016=) rs772399724 0.00004
NM_018136.5(ASPM):c.*145T>G rs537891059 0.00003
NM_018136.5(ASPM):c.1825C>G (p.Pro609Ala) rs760610573 0.00003
NM_018136.5(ASPM):c.2173+6C>T rs377501585 0.00003
NM_018136.5(ASPM):c.4024A>G (p.Lys1342Glu) rs779744390 0.00003
NM_018136.5(ASPM):c.4488A>G (p.Lys1496=) rs141695023 0.00003
NM_018136.5(ASPM):c.6965A>C (p.Tyr2322Ser) rs886045768 0.00003
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) rs587783281 0.00003
NM_018136.5(ASPM):c.902A>G (p.Asn301Ser) rs199621432 0.00003
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp) rs142024644 0.00003
NM_018136.5(ASPM):c.1310G>A (p.Arg437His) rs551198579 0.00002
NM_018136.5(ASPM):c.3480T>A (p.Ala1160=) rs373180437 0.00002
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys) rs199874115 0.00002
NM_018136.5(ASPM):c.3871-8T>C rs770297822 0.00002
NM_018136.5(ASPM):c.489A>G (p.Thr163=) rs372355541 0.00002
NM_018136.5(ASPM):c.5478A>C (p.Ile1826=) rs764346876 0.00002
NM_018136.5(ASPM):c.6843A>T (p.Arg2281Ser) rs749279060 0.00002
NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln) rs537930821 0.00001
NM_018136.5(ASPM):c.128A>G (p.His43Arg) rs763864896 0.00001
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr) rs757587073 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.1857T>C (p.Asn619=) rs747330693 0.00001
NM_018136.5(ASPM):c.193C>A (p.Leu65Met) rs780727023 0.00001
NM_018136.5(ASPM):c.2062A>C (p.Asn688His) rs775158833 0.00001
NM_018136.5(ASPM):c.2173+5A>T rs1196624971 0.00001
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) rs763288947 0.00001
NM_018136.5(ASPM):c.2936+13A>G rs759746669 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala) rs149330414 0.00001
NM_018136.5(ASPM):c.3622G>A (p.Glu1208Lys) rs1320488101 0.00001
NM_018136.5(ASPM):c.3895A>G (p.Ile1299Val) rs770550480 0.00001
NM_018136.5(ASPM):c.4206G>A (p.Arg1402=) rs1657367896 0.00001
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln) rs587783243 0.00001
NM_018136.5(ASPM):c.4560del (p.Tyr1521fs) rs1402437185 0.00001
NM_018136.5(ASPM):c.5098C>T (p.His1700Tyr) rs749580322 0.00001
NM_018136.5(ASPM):c.5131T>C (p.Cys1711Arg) rs886045773 0.00001
NM_018136.5(ASPM):c.5587A>G (p.Thr1863Ala) rs769813952 0.00001
NM_018136.5(ASPM):c.5967G>A (p.Lys1989=) rs886045770 0.00001
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) rs763984813 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.7347T>G (p.His2449Gln) rs1183596520 0.00001
NM_018136.5(ASPM):c.7878G>A (p.Gln2626=) rs757860001 0.00001
NM_018136.5(ASPM):c.8142A>C (p.Ala2714=) rs765601630 0.00001
NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val) rs140656421 0.00001
NM_018136.5(ASPM):c.8804G>A (p.Ser2935Asn) rs886045762 0.00001
NM_018136.5(ASPM):c.8892G>T (p.Trp2964Cys) rs201285805 0.00001
NM_018136.5(ASPM):c.898C>G (p.Pro300Ala) rs200453432 0.00001
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) rs79899243 0.00001
NM_018136.5(ASPM):c.-189C>G rs867409096
NM_018136.5(ASPM):c.-214T>C rs886045781
NM_018136.5(ASPM):c.10039T>C (p.Leu3347=) rs886045760
NM_018136.5(ASPM):c.10095C>T (p.Gly3365=) rs886045759
NM_018136.5(ASPM):c.1267C>G (p.Pro423Ala) rs1658644883
NM_018136.5(ASPM):c.17T>C (p.Val6Ala) rs886045779
NM_018136.5(ASPM):c.1841T>C (p.Val614Ala) rs1658614866
NM_018136.5(ASPM):c.2042C>T (p.Pro681Leu) rs753945250
NM_018136.5(ASPM):c.2055T>A (p.Ala685=) rs1658380406
NM_018136.5(ASPM):c.2135C>A (p.Thr712Asn) rs886045778
NM_018136.5(ASPM):c.2174-12G>A rs757488628
NM_018136.5(ASPM):c.2419+11T>C rs1658320215
NM_018136.5(ASPM):c.2592G>A (p.Glu864=) rs769421796
NM_018136.5(ASPM):c.2887T>G (p.Phe963Val) rs1658160160
NM_018136.5(ASPM):c.2916G>A (p.Leu972=) rs150590956
NM_018136.5(ASPM):c.3056G>T (p.Arg1019Leu) rs780791970
NM_018136.5(ASPM):c.3144T>C (p.Leu1048=) rs1292454651
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=) rs868630671
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3599-7A>C rs886045777
NM_018136.5(ASPM):c.3599-7A>G rs886045777
NM_018136.5(ASPM):c.3742-12G>C rs748824950
NM_018136.5(ASPM):c.3845T>C (p.Leu1282Pro) rs886045776
NM_018136.5(ASPM):c.4214G>C (p.Arg1405Pro) rs143092798
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile) rs1657362655
NM_018136.5(ASPM):c.4507G>A (p.Ala1503Thr) rs1657354520
NM_018136.5(ASPM):c.4613G>A (p.Arg1538Gln) rs1657346244
NM_018136.5(ASPM):c.4726A>G (p.Arg1576Gly) rs886045775
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5424G>A (p.Leu1808=) rs1657297637
NM_018136.5(ASPM):c.5509G>T (p.Gly1837Cys) rs1657292215
NM_018136.5(ASPM):c.5606C>G (p.Thr1869Arg) rs886045772
NM_018136.5(ASPM):c.5693A>T (p.His1898Leu) rs1215586674
NM_018136.5(ASPM):c.5742G>T (p.Gln1914His) rs886045771
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys) rs755151801
NM_018136.5(ASPM):c.6716T>C (p.Leu2239Pro) rs548708212
NM_018136.5(ASPM):c.6736A>G (p.Ile2246Val) rs886045769
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.7045A>C (p.Arg2349=) rs771273638
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly) rs560411441
NM_018136.5(ASPM):c.7757A>G (p.Lys2586Arg) rs886045767
NM_018136.5(ASPM):c.7853A>G (p.Lys2618Arg) rs886045766
NM_018136.5(ASPM):c.7976G>A (p.Arg2659Lys) rs886045765
NM_018136.5(ASPM):c.8117T>C (p.Val2706Ala) rs1657157578
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr) rs886045764
NM_018136.5(ASPM):c.8685A>C (p.Ala2895=) rs886045763
NM_018136.5(ASPM):c.8736T>C (p.Ser2912=) rs1657117675
NM_018136.5(ASPM):c.9144C>G (p.Val3048=) rs1656844574
NM_018136.5(ASPM):c.951T>G (p.Ser317Arg) rs1658660724
NM_018136.5(ASPM):c.9540G>A (p.Gln3180=) rs530083972
NM_018136.5(ASPM):c.9939G>T (p.Met3313Ile) rs1427418520

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