ClinVar Miner

List of variants in gene ASPM reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.77179
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.8988-42G>A rs41304071 0.30406
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_018136.5(ASPM):c.-110C>T rs74981632 0.02032
NM_018136.5(ASPM):c.3391-14G>T rs80058948 0.02003
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_018136.5(ASPM):c.2307A>G (p.Ala769=) rs35897746 0.01457
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00824
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala) rs114695225 0.00779
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser) rs114737609 0.00775
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_018136.5(ASPM):c.1922-14C>G rs189193044 0.00203
NM_018136.5(ASPM):c.5940C>T (p.Tyr1980=) rs150642468 0.00177
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
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 0.00137
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.6125A>G (p.Asp2042Gly) rs150327858 0.00109
NM_018136.5(ASPM):c.-9G>T rs141108591 0.00105
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
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.9911G>A (p.Arg3304Gln) rs149859034 0.00079
NM_018136.5(ASPM):c.9985-72G>A rs538986451 0.00077
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00066
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00066
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=) rs147100928 0.00061
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=) rs143931757 0.00061
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) rs117963393 0.00059
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.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg) rs147457270 0.00040
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742 0.00036
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr) rs142214506 0.00031
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
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.7428G>T (p.Lys2476Asn) rs200654820 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.4214G>A (p.Arg1405His) rs143092798 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.81C>A (p.Pro27=) rs369801034 0.00016
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_018136.5(ASPM):c.4066-32T>C rs143351980 0.00012
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.8524C>T (p.Arg2842Trp) rs112946633 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys) rs140679756 0.00010
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser) rs145645602 0.00008
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn) rs587783218 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.8557C>T (p.Arg2853Trp) rs150424130 0.00006
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp) rs370907931 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_018136.5(ASPM):c.10331+5G>A rs368843607 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.441+10T>G rs587783242 0.00004
NM_018136.5(ASPM):c.5923A>G (p.Ile1975Val) rs548744621 0.00004
NM_018136.5(ASPM):c.6795C>T (p.Ala2265=) rs750759285 0.00004
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=) rs587783262 0.00004
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr) rs202012380 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_018136.5(ASPM):c.1995C>T (p.Ser665=) rs797045310 0.00003
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys) rs367946511 0.00003
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr) rs181039922 0.00003
NM_018136.5(ASPM):c.609C>T (p.Gly203=) rs587783255 0.00003
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) rs587783281 0.00003
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr) rs775263946 0.00003
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp) rs772813676 0.00003
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp) rs142024644 0.00003
NM_018136.5(ASPM):c.9726G>A (p.Glu3242=) rs587783294 0.00003
NM_018136.5(ASPM):c.9928A>G (p.Ile3310Val) rs147256280 0.00003
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_018136.5(ASPM):c.309A>G (p.Lys103=) rs587783229 0.00002
NM_018136.5(ASPM):c.3320A>G (p.Glu1107Gly) rs377348290 0.00002
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys) rs199874115 0.00002
NM_018136.5(ASPM):c.489A>G (p.Thr163=) rs372355541 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.7841A>G (p.Asp2614Gly) rs587783273 0.00002
NM_018136.5(ASPM):c.7858C>A (p.Gln2620Lys) rs587783274 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.*78C>G rs3790415 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.10109C>G (p.Thr3370Arg) rs587783209 0.00001
NM_018136.5(ASPM):c.1174T>A (p.Ser392Thr) rs765134677 0.00001
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs) rs1404276011 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_018136.5(ASPM):c.2312G>A (p.Arg771His) rs375059809 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.3825A>C (p.Thr1275=) rs587783237 0.00001
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs) rs759632528 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.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe) rs1464543547 0.00001
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) rs772751994 0.00001
NM_018136.5(ASPM):c.5226C>T (p.Tyr1742=) rs780801872 0.00001
NM_018136.5(ASPM):c.59C>T (p.Pro20Leu) rs587783252 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter) rs1334947797 0.00001
NM_018136.5(ASPM):c.7062T>C (p.Tyr2354=) rs587783261 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.8330G>C (p.Cys2777Ser) rs1445505219 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.9320G>A (p.Arg3107Gln) rs587783290 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His) rs201362977 0.00001
NM_018136.5(ASPM):c.10100G>A (p.Ser3367Asn) rs587783208
NM_018136.5(ASPM):c.10161+13_10161+16del rs797045308
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1192A>G (p.Lys398Glu) rs797045309
NM_018136.5(ASPM):c.1201A>G (p.Met401Val) rs587783217
NM_018136.5(ASPM):c.1495A>G (p.Lys499Glu) rs587783219
NM_018136.5(ASPM):c.1531G>C (p.Glu511Gln) rs1553227712
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs) rs587783221
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs) rs1553227645
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2724T>C (p.His908=) rs587783226
NM_018136.5(ASPM):c.2936dup (p.Arg980fs) rs797045311
NM_018136.5(ASPM):c.2968del (p.Asp990fs) rs587783228
NM_018136.5(ASPM):c.297+1G>C rs1553228275
NM_018136.5(ASPM):c.301A>G (p.Lys101Glu) rs549294276
NM_018136.5(ASPM):c.3089C>A (p.Thr1030Lys) rs1571616712
NM_018136.5(ASPM):c.3100A>G (p.Lys1034Glu) rs797045312
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter) rs587783230
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3390+3_3390+6del rs797045313
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs) rs769818500
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3714T>C (p.Asp1238=) rs587783233
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter) rs587783238
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter) rs2125096695
NM_018136.5(ASPM):c.4562A>G (p.Tyr1521Cys) rs768384827
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His) rs200681905
NM_018136.5(ASPM):c.4630T>G (p.Leu1544Val) rs1274664037
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.5292G>A (p.Met1764Ile) rs587783249
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs) rs1403868262
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) rs797045314
NM_018136.5(ASPM):c.5582A>G (p.Tyr1861Cys) rs587783250
NM_018136.5(ASPM):c.5629G>T (p.Ala1877Ser) rs112230218
NM_018136.5(ASPM):c.562G>C (p.Val188Leu) rs587783251
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.606A>G (p.Glu202=) rs587783254
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.6241A>G (p.Lys2081Glu) rs587783256
NM_018136.5(ASPM):c.6334C>T (p.His2112Tyr) rs587783257
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.7308dup (p.Val2437fs) rs797045315
NM_018136.5(ASPM):c.7576A>G (p.Asn2526Asp) rs587783267
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter) rs587783268
NM_018136.5(ASPM):c.7665del (p.Ala2556fs) rs587783269
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7817C>A (p.Thr2606Asn) rs587783271
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter) rs587783272
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs) rs797045316
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.803_804del (p.Lys268fs) rs587783277
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8291A>G (p.Glu2764Gly) rs587783279
NM_018136.5(ASPM):c.8475T>C (p.Phe2825=) rs1553327529
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter) rs587783282
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) rs587783285
NM_018136.5(ASPM):c.8987+39TG[2] rs200804798
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter) rs587783288
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs) rs587783289
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro) rs36004306
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9662G>A (p.Arg3221Lys) rs587783293
NM_018136.5(ASPM):c.9682A>G (p.Lys3228Glu) rs1553326052

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