ClinVar Miner

List of variants reported as uncertain significance for Microcephaly 5, primary, autosomal recessive

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 359
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.-110C>T rs74981632 0.01875
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00823
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00361
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00209
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00192
NM_018136.5(ASPM):c.1922-14C>G rs189193044 0.00187
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761 0.00153
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro) rs142536561 0.00150
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00133
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00130
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.6125A>G (p.Asp2042Gly) rs150327858 0.00101
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00097
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00094
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00094
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) rs117963393 0.00087
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034 0.00079
NM_018136.5(ASPM):c.9985-72G>A rs538986451 0.00077
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=) rs147100928 0.00062
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu) rs140119882 0.00054
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00050
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00048
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg) rs147457270 0.00040
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00040
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00037
NM_018136.5(ASPM):c.*82G>A rs775183015 0.00034
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.7114A>G (p.Arg2372Gly) rs190693455 0.00031
NM_018136.5(ASPM):c.1467A>G (p.Arg489=) rs146561469 0.00030
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) rs137890991 0.00030
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys) rs200202166 0.00029
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) rs150684410 0.00027
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) rs139317695 0.00026
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00026
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00026
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00025
NM_018136.5(ASPM):c.1921+13T>G rs41304245 0.00025
NM_018136.5(ASPM):c.2043G>A (p.Pro681=) rs147526389 0.00025
NM_018136.5(ASPM):c.523G>A (p.Val175Ile) rs201934616 0.00021
NM_018136.5(ASPM):c.5818C>G (p.Gln1940Glu) rs142378871 0.00021
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) rs147466865 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 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.8228G>A (p.Arg2743Gln) rs202193200 0.00020
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys) rs112997359 0.00019
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126 0.00019
NM_018136.5(ASPM):c.*61G>A rs111463579 0.00018
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) rs146959075 0.00018
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg) rs201927596 0.00018
NM_018136.5(ASPM):c.81C>A (p.Pro27=) rs369801034 0.00018
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr) rs189918817 0.00017
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His) rs143092798 0.00016
NM_018136.5(ASPM):c.7179T>A (p.Ala2393=) rs117668001 0.00016
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_018136.5(ASPM):c.10416G>A (p.Thr3472=) rs150108952 0.00014
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.1095T>G (p.Ile365Met) rs375572921 0.00013
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=) rs587783246 0.00013
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg) rs371325877 0.00012
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg) rs201679731 0.00011
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile) rs370380433 0.00011
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018136.5(ASPM):c.4053A>C (p.Ala1351=) rs147209201 0.00011
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr) rs375240502 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg) rs186663906 0.00011
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00011
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp) rs112946633 0.00011
NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile) rs139097869 0.00011
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser) rs147839989 0.00010
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) rs148338547 0.00010
NM_018136.5(ASPM):c.9246T>C (p.Ser3082=) rs201050851 0.00010
NM_018136.5(ASPM):c.135C>T (p.Cys45=) rs200874183 0.00009
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val) rs531131529 0.00009
NM_018136.5(ASPM):c.4796G>A (p.Arg1599Gln) rs62623433 0.00009
NM_018136.5(ASPM):c.9540G>A (p.Gln3180=) rs530083972 0.00009
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys) rs140679756 0.00009
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val) rs767859450 0.00008
NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys) rs1182835336 0.00008
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser) rs145645602 0.00008
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe) rs371321801 0.00008
NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val) rs150906798 0.00008
NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr) rs149162314 0.00007
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly) rs140410863 0.00007
NM_018136.5(ASPM):c.2419+6A>T rs202002135 0.00007
NM_018136.5(ASPM):c.3955G>T (p.Ala1319Ser) rs376541100 0.00007
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr) rs777352982 0.00007
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys) rs753900028 0.00007
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln) rs200848981 0.00007
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu) rs753961004 0.00007
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) rs79899243 0.00007
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala) rs542967760 0.00007
NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr) rs761768584 0.00006
NM_018136.5(ASPM):c.10261C>A (p.Gln3421Lys) rs201191528 0.00006
NM_018136.5(ASPM):c.10331+5G>A rs368843607 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.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448 0.00006
NM_018136.5(ASPM):c.5471A>G (p.Gln1824Arg) rs62623448 0.00006
NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr) rs200800956 0.00006
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp) rs150424130 0.00006
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn) rs587783218 0.00005
NM_018136.5(ASPM):c.2532C>T (p.Val844=) rs141716537 0.00005
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 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.4309C>T (p.Arg1437Cys) rs371861473 0.00005
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys) rs375852743 0.00005
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp) rs370907931 0.00005
NM_018136.5(ASPM):c.639A>G (p.Ile213Met) rs766195570 0.00005
NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys) rs142865061 0.00005
NM_018136.5(ASPM):c.6965A>C (p.Tyr2322Ser) rs886045768 0.00005
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile) rs764918001 0.00005
NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln) rs777169562 0.00005
NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln) rs747515767 0.00005
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln) rs565600060 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.1474A>G (p.Ile492Val) rs149075351 0.00004
NM_018136.5(ASPM):c.1681G>A (p.Glu561Lys) rs763648822 0.00004
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val) rs376642620 0.00004
NM_018136.5(ASPM):c.441+10T>G rs587783242 0.00004
NM_018136.5(ASPM):c.4457A>G (p.Tyr1486Cys) rs368020945 0.00004
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp) rs770335356 0.00004
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys) rs149376906 0.00004
NM_018136.5(ASPM):c.5923A>G (p.Ile1975Val) rs548744621 0.00004
NM_018136.5(ASPM):c.6046T>C (p.Leu2016=) rs772399724 0.00004
NM_018136.5(ASPM):c.6351C>T (p.His2117=) rs769102245 0.00004
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=) rs587783262 0.00004
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His) rs145333987 0.00004
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His) rs201362977 0.00004
NM_018136.5(ASPM):c.9932C>T (p.Pro3311Leu) rs886045761 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.1885A>G (p.Ser629Gly) rs766228975 0.00003
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys) rs367946511 0.00003
NM_018136.5(ASPM):c.2173+6C>T rs377501585 0.00003
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr) rs181039922 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.4867A>G (p.Met1623Val) rs369399401 0.00003
NM_018136.5(ASPM):c.5478A>C (p.Ile1826=) rs764346876 0.00003
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu) rs371985944 0.00003
NM_018136.5(ASPM):c.609C>T (p.Gly203=) rs587783255 0.00003
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe) rs371020085 0.00003
NM_018136.5(ASPM):c.7799A>G (p.Asn2600Ser) rs371852516 0.00003
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) rs587783281 0.00003
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met) rs142176273 0.00003
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr) rs775263946 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.9167C>A (p.Ala3056Asp) rs758869894 0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro) rs375985254 0.00003
NM_018136.5(ASPM):c.-214T>C rs886045781 0.00002
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His) rs141240137 0.00002
NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn) rs794727443 0.00002
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr) rs757587073 0.00002
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys) rs759534488 0.00002
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg) rs763381773 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2629+3A>G rs758509567 0.00002
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val) rs370813778 0.00002
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser) rs765798033 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.4444C>T (p.Arg1482Trp) rs371997190 0.00002
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg) rs1330465142 0.00002
NM_018136.5(ASPM):c.4591C>T (p.Arg1531Cys) rs780484121 0.00002
NM_018136.5(ASPM):c.489A>G (p.Thr163=) rs372355541 0.00002
NM_018136.5(ASPM):c.582T>C (p.Ala194=) rs556849969 0.00002
NM_018136.5(ASPM):c.5849C>T (p.Ala1950Val) rs368693433 0.00002
NM_018136.5(ASPM):c.6058A>G (p.Thr2020Ala) rs587783253 0.00002
NM_018136.5(ASPM):c.6545T>G (p.Val2182Gly) rs765139526 0.00002
NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly) rs373818179 0.00002
NM_018136.5(ASPM):c.6843A>T (p.Arg2281Ser) rs749279060 0.00002
NM_018136.5(ASPM):c.7841A>G (p.Asp2614Gly) rs587783273 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln) rs537930821 0.00001
NM_018136.5(ASPM):c.10109C>G (p.Thr3370Arg) rs587783209 0.00001
NM_018136.5(ASPM):c.10284C>G (p.Ser3428Arg) rs370856504 0.00001
NM_018136.5(ASPM):c.112G>A (p.Val38Ile) rs587783214 0.00001
NM_018136.5(ASPM):c.1267C>G (p.Pro423Ala) rs1658644883 0.00001
NM_018136.5(ASPM):c.128A>G (p.His43Arg) rs763864896 0.00001
NM_018136.5(ASPM):c.1310G>A (p.Arg437His) rs551198579 0.00001
NM_018136.5(ASPM):c.1495A>G (p.Lys499Glu) rs587783219 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile) rs766146033 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.1879C>T (p.Arg627Cys) rs778523464 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.2135C>A (p.Thr712Asn) rs886045778 0.00001
NM_018136.5(ASPM):c.2173+5A>T rs1196624971 0.00001
NM_018136.5(ASPM):c.2312G>A (p.Arg771His) rs375059809 0.00001
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) rs763288947 0.00001
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg) rs372956877 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018136.5(ASPM):c.2936+13A>G rs759746669 0.00001
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=) rs868630671 0.00001
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys) rs771442227 0.00001
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala) rs149330414 0.00001
NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn) rs768169498 0.00001
NM_018136.5(ASPM):c.3622G>A (p.Glu1208Lys) rs1320488101 0.00001
NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp) rs867611929 0.00001
NM_018136.5(ASPM):c.3725C>T (p.Thr1242Ile) rs923491109 0.00001
NM_018136.5(ASPM):c.3825A>C (p.Thr1275=) rs587783237 0.00001
NM_018136.5(ASPM):c.3895A>G (p.Ile1299Val) rs770550480 0.00001
NM_018136.5(ASPM):c.396C>G (p.His132Gln) rs761152464 0.00001
NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile) rs1329837493 0.00001
NM_018136.5(ASPM):c.4206G>A (p.Arg1402=) rs1657367896 0.00001
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly) rs769921325 0.00001
NM_018136.5(ASPM):c.441+5T>G rs1359443986 0.00001
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln) rs587783243 0.00001
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu) rs587783244 0.00001
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys) rs751358312 0.00001
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe) rs1464543547 0.00001
NM_018136.5(ASPM):c.5055G>T (p.Leu1685Phe) rs768697877 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.5326A>G (p.Lys1776Glu) rs1553223646 0.00001
NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn) rs1338772800 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.59C>T (p.Pro20Leu) rs587783252 0.00001
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) rs763984813 0.00001
NM_018136.5(ASPM):c.6172A>G (p.Lys2058Glu) rs774901339 0.00001
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) rs937207468 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.7062T>C (p.Tyr2354=) rs587783261 0.00001
NM_018136.5(ASPM):c.7347T>G (p.His2449Gln) rs1183596520 0.00001
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg) rs778023526 0.00001
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln) rs751584273 0.00001
NM_018136.5(ASPM):c.7853A>G (p.Lys2618Arg) rs886045766 0.00001
NM_018136.5(ASPM):c.7878G>A (p.Gln2626=) rs757860001 0.00001
NM_018136.5(ASPM):c.7976G>A (p.Arg2659Lys) rs886045765 0.00001
NM_018136.5(ASPM):c.8117T>C (p.Val2706Ala) rs1657157578 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.8371G>A (p.Gly2791Ser) rs966129910 0.00001
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val) rs199575079 0.00001
NM_018136.5(ASPM):c.8685A>C (p.Ala2895=) rs886045763 0.00001
NM_018136.5(ASPM):c.8804G>A (p.Ser2935Asn) rs886045762 0.00001
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His) rs776868381 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.9320G>A (p.Arg3107Gln) rs587783290 0.00001
NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu) rs753771321 0.00001
NM_018136.5(ASPM):c.9928A>G (p.Ile3310Val) rs147256280 0.00001
NM_018136.5(ASPM):c.-189C>G rs867409096
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.10100G>A (p.Ser3367Asn) rs587783208
NM_018136.5(ASPM):c.10118G>A (p.Cys3373Tyr) rs1656663616
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) rs1385075246
NM_018136.5(ASPM):c.10235T>C (p.Met3412Thr)
NM_018136.5(ASPM):c.1201A>G (p.Met401Val) rs587783217
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.1845_1847del (p.Lys616del) rs750297982
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.2174-12G>A rs757488628
NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly) rs145489194
NM_018136.5(ASPM):c.2419+11T>C rs1658320215
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
NM_018136.5(ASPM):c.2583A>G (p.Ile861Met) rs2527368558
NM_018136.5(ASPM):c.2592G>A (p.Glu864=) rs769421796
NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe) rs755211990
NM_018136.5(ASPM):c.2724T>C (p.His908=) rs587783226
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.301A>G (p.Lys101Glu) rs549294276
NM_018136.5(ASPM):c.3056G>T (p.Arg1019Leu) rs780791970
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) rs2125105601
NM_018136.5(ASPM):c.3115A>G (p.Arg1039Gly) rs1259632140
NM_018136.5(ASPM):c.3144T>C (p.Leu1048=) rs1292454651
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro) rs2527347036
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.3904G>T (p.Ala1302Ser)
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4180C>A (p.Leu1394Ile) rs759544893
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
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.4438_4440dup (p.Glu1480dup) rs769728447
NM_018136.5(ASPM):c.4507G>A (p.Ala1503Thr) rs1657354520
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His) rs200681905
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.4846T>A (p.Phe1616Ile) rs1657332165
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5216T>C (p.Val1739Ala)
NM_018136.5(ASPM):c.5292G>A (p.Met1764Ile) rs587783249
NM_018136.5(ASPM):c.5391CTT[1] (p.Phe1798del)
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.5582A>G (p.Tyr1861Cys) rs587783250
NM_018136.5(ASPM):c.5606C>G (p.Thr1869Arg) rs886045772
NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr) rs1390187208
NM_018136.5(ASPM):c.562G>C (p.Val188Leu) rs587783251
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.5897A>G (p.Gln1966Arg) rs140834556
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del) rs1220559093
NM_018136.5(ASPM):c.6334C>T (p.His2112Tyr) rs587783257
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys) rs1267196794
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.7045A>C (p.Arg2349=) rs771273638
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg) rs2125116158
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn) rs376686304
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly) rs560411441
NM_018136.5(ASPM):c.7532A>C (p.Gln2511Pro)
NM_018136.5(ASPM):c.7757A>G (p.Lys2586Arg) rs886045767
NM_018136.5(ASPM):c.7811A>G (p.Lys2604Arg) rs2527291464
NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp) rs1657173758
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del) rs760602890
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg) rs2527291003
NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del) rs775391911
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.8291A>G (p.Glu2764Gly) rs587783279
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr) rs886045764
NM_018136.5(ASPM):c.8450C>A (p.Ala2817Asp)
NM_018136.5(ASPM):c.8736T>C (p.Ser2912=) rs1657117675
NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu) rs1467804868
NM_018136.5(ASPM):c.9144C>G (p.Val3048=) rs1656844574
NM_018136.5(ASPM):c.9294+4_9294+7del
NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser) rs773154966
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro) rs36004306
NM_018136.5(ASPM):c.951T>G (p.Ser317Arg) rs1658660724
NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys) rs760292134
NM_018136.5(ASPM):c.9662G>A (p.Arg3221Lys) rs587783293
NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr) rs754294536
NM_018136.5(ASPM):c.9939G>T (p.Met3313Ile) rs1427418520

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