ClinVar Miner

List of variants in gene ASPM reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 420
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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.3390+142T>A rs6685259 0.88797
NM_018136.5(ASPM):c.2760+174C>G rs6695300 0.85987
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_018136.5(ASPM):c.*81C>T rs12677 0.77214
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.2173+251C>T rs877897 0.77165
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_018136.5(ASPM):c.10331+151A>G rs10733087 0.77158
NM_018136.5(ASPM):c.8987+230_8987+231insTAC rs3077762 0.77121
NM_018136.5(ASPM):c.9636+102C>T rs4915315 0.75691
NM_018136.5(ASPM):c.4065+250G>A rs10754215 0.75660
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.9636+88T>C rs10754214 0.74885
NM_018136.5(ASPM):c.2488-299T>C rs7541429 0.74867
NM_018136.5(ASPM):c.2026+204G>A rs10737687 0.74866
NM_018136.5(ASPM):c.9636+52T>C rs4915316 0.74861
NM_018136.5(ASPM):c.8987+302T>C rs1953064 0.74860
NM_018136.5(ASPM):c.2420-139A>G rs3737111 0.44428
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.2174-201G>A rs41310911 0.30395
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.2487+112G>T rs3737110 0.30234
NM_018136.5(ASPM):c.3391-83A>G rs61819088 0.30223
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.9444+254T>A rs955927 0.29790
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NC_000001.11:g.197084011T>C rs1332660 0.16239
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_018136.5(ASPM):c.9636+116G>A rs72736482 0.07792
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.2419+204C>T rs79246047 0.02799
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_018136.5(ASPM):c.2173+120A>G rs114887287 0.02280
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.10161+144A>T rs75268113 0.02000
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NC_000001.11:g.197083990C>T rs75841031 0.01514
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.2419+313A>G rs115195513 0.01507
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_018136.5(ASPM):c.2937-171T>C rs114071210 0.01462
NM_018136.5(ASPM):c.3871-251A>G rs60769813 0.01462
NM_018136.5(ASPM):c.2419+289C>T rs115786119 0.01461
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.2026+313C>T rs111753423 0.00935
NM_018136.5(ASPM):c.8821-287_8821-286del rs112683881 0.00929
NM_018136.5(ASPM):c.9445-249G>A rs112214972 0.00929
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_018136.5(ASPM):c.9084+131G>A rs114361901 0.00850
NM_018136.5(ASPM):c.9637-38G>A rs116608360 0.00848
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.1921+300G>A rs116832434 0.00788
NM_018136.5(ASPM):c.2488-131A>C rs80157479 0.00787
NM_018136.5(ASPM):c.9444+111G>A rs79431914 0.00787
NM_018136.5(ASPM):c.9636+68del rs201186097 0.00785
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.9085-101T>A rs145908430 0.00778
NM_018136.5(ASPM):c.9085-83A>G rs116297575 0.00778
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.3390+162A>G rs139855488 0.00774
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_018136.5(ASPM):c.4065+73A>G rs115716898 0.00752
NM_018136.5(ASPM):c.442-26T>C rs76822237 0.00752
NM_018136.5(ASPM):c.3870+294G>A rs78930407 0.00748
NM_018136.5(ASPM):c.3871-172G>A rs115201296 0.00737
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_018136.5(ASPM):c.3391-298A>G rs138191108 0.00690
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.2487+294A>G rs141225800 0.00648
NM_018136.5(ASPM):c.2173+269T>G rs142033276 0.00646
NM_018136.5(ASPM):c.2488-99A>G rs143729423 0.00644
NM_018136.5(ASPM):c.10162-73G>T rs149864217 0.00639
NM_018136.5(ASPM):c.2630-61T>G rs79301608 0.00637
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_018136.5(ASPM):c.2027-324T>C rs112559696 0.00457
NM_018136.5(ASPM):c.9444+61A>G rs146122230 0.00456
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_018136.5(ASPM):c.-28G>A rs111299108 0.00419
NM_018136.5(ASPM):c.442-58G>A rs138530804 0.00403
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.3791G>A (p.Arg1264His) rs150125249 0.00378
NM_018136.5(ASPM):c.2629+29C>T rs201856338 0.00368
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_018136.5(ASPM):c.2760+138G>C rs190968454 0.00306
NM_018136.5(ASPM):c.3870+25A>G rs140776310 0.00290
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_018136.5(ASPM):c.8821-47A>G rs139830165 0.00280
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.1732G>A (p.Asp578Asn) rs60950503 0.00119
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.-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.2420-20G>A rs191404122 0.00087
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.9272G>A (p.Arg3091His) rs147005963 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.8068C>T (p.Arg2690Trp) rs41302133 0.00049
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
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.6388C>T (p.His2130Tyr) rs554124451 0.00040
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp) rs141532484 0.00038
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742 0.00036
NM_018136.5(ASPM):c.1467A>G (p.Arg489=) rs146561469 0.00033
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys) rs201066146 0.00031
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.1304C>T (p.Ser435Leu) rs150684410 0.00030
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) rs137890991 0.00030
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00029
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys) rs200202166 0.00029
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_018136.5(ASPM):c.9006A>G (p.Ala3002=) rs143760252 0.00028
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.8741T>C (p.Ile2914Thr) rs200856894 0.00021
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln) rs148245202 0.00020
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126 0.00019
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg) rs201927596 0.00018
NM_018136.5(ASPM):c.8277A>G (p.Lys2759=) rs148555951 0.00018
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.6514G>A (p.Val2172Ile) rs370590014 0.00016
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=) rs779442940 0.00016
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe) rs560847421 0.00014
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu) rs527602809 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala) rs141348662 0.00014
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.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018136.5(ASPM):c.502A>C (p.Arg168=) rs147527791 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_018136.5(ASPM):c.9085-3T>C rs201188381 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.3083-11T>C rs372375601 0.00010
NM_018136.5(ASPM):c.3156G>A (p.Ala1052=) rs143680877 0.00010
NM_018136.5(ASPM):c.4135T>C (p.Ser1379Pro) rs768625023 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.9539A>C (p.Gln3180Pro) rs193251130 0.00009
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.7106A>C (p.Gln2369Pro) rs372076208 0.00008
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.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_018136.5(ASPM):c.3516G>A (p.Thr1172=) rs369377108 0.00006
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) rs371861473 0.00006
NM_018136.5(ASPM):c.4914G>A (p.Val1638=) rs759159863 0.00006
NM_018136.5(ASPM):c.5990C>T (p.Ala1997Val) rs767318099 0.00006
NM_018136.5(ASPM):c.6606A>T (p.Arg2202Ser) rs373173968 0.00006
NM_018136.5(ASPM):c.9471A>G (p.Glu3157=) rs764291332 0.00006
NM_018136.5(ASPM):c.1579G>C (p.Glu527Gln) rs376058344 0.00005
NM_018136.5(ASPM):c.19G>C (p.Gly7Arg) rs776662758 0.00005
NM_018136.5(ASPM):c.450T>C (p.Leu150=) rs762652552 0.00005
NM_018136.5(ASPM):c.7635A>G (p.Lys2545=) rs753881432 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.5472A>G (p.Gln1824=) rs755923607 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.7033T>C (p.Phe2345Leu) rs761572391 0.00004
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=) rs544467368 0.00004
NM_018136.5(ASPM):c.8757A>T (p.Arg2919Ser) rs751097660 0.00004
NM_018136.5(ASPM):c.9152G>A (p.Arg3051Gln) rs368000478 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 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.10057T>C (p.Tyr3353His) rs141240137 0.00003
NM_018136.5(ASPM):c.10331+18G>A rs571179573 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.2310C>T (p.Cys770=) rs1215078842 0.00003
NM_018136.5(ASPM):c.3390+3A>G rs377110373 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.4422G>A (p.Trp1474Ter) rs147622433 0.00003
NM_018136.5(ASPM):c.5551A>G (p.Ile1851Val) rs200704986 0.00003
NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=) rs189678019 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.9763C>T (p.Leu3255Phe) rs150809058 0.00003
NM_018136.5(ASPM):c.10041G>A (p.Leu3347=) rs191340810 0.00002
NM_018136.5(ASPM):c.1790G>A (p.Arg597Gln) rs377444313 0.00002
NM_018136.5(ASPM):c.1871T>C (p.Ile624Thr) rs1057523023 0.00002
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys) rs759534488 0.00002
NM_018136.5(ASPM):c.2064C>T (p.Asn688=) rs199588137 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser) rs765798033 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_018136.5(ASPM):c.4033A>G (p.Lys1345Glu) rs747210446 0.00002
NM_018136.5(ASPM):c.5735A>G (p.Lys1912Arg) rs770891084 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.7426A>G (p.Lys2476Glu) rs539679809 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.8383C>G (p.Gln2795Glu) rs776299348 0.00002
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018136.5(ASPM):c.9626T>C (p.Ile3209Thr) rs1057523398 0.00002
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs) rs754767041 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.1076A>G (p.His359Arg) rs534221332 0.00001
NM_018136.5(ASPM):c.1353dup (p.Glu452Ter) rs774814318 0.00001
NM_018136.5(ASPM):c.1567A>G (p.Ser523Gly) rs767198870 0.00001
NM_018136.5(ASPM):c.1648C>A (p.Pro550Thr) rs764977482 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_018136.5(ASPM):c.2409G>A (p.Trp803Ter) rs1057518269 0.00001
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg) rs372956877 0.00001
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile) rs778251863 0.00001
NM_018136.5(ASPM):c.2936+5G>A rs199422150 0.00001
NM_018136.5(ASPM):c.302A>G (p.Lys101Arg) rs876660958 0.00001
NM_018136.5(ASPM):c.3247A>G (p.Ile1083Val) rs772918163 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu) rs587783244 0.00001
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe) rs1464543547 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018136.5(ASPM):c.497A>G (p.Asn166Ser) rs199520703 0.00001
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) rs763984813 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) rs937207468 0.00001
NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His) rs1183851640 0.00001
NM_018136.5(ASPM):c.6686G>C (p.Arg2229Thr) rs745714332 0.00001
NM_018136.5(ASPM):c.7752A>G (p.Gln2584=) rs767030089 0.00001
NM_018136.5(ASPM):c.8124T>G (p.Tyr2708Ter) rs876661036 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.8555A>G (p.Tyr2852Cys) rs758945213 0.00001
NM_018136.5(ASPM):c.8577G>C (p.Gln2859His) rs766154891 0.00001
NM_018136.5(ASPM):c.857T>C (p.Val286Ala) rs1553227891 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His) rs776868381 0.00001
NM_018136.5(ASPM):c.9383A>G (p.Tyr3128Cys) rs140119849 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.10331+5G>T rs368843607
NM_018136.5(ASPM):c.10332-20dup rs200839523
NM_018136.5(ASPM):c.10332-40_10332-38del rs537718986
NM_018136.5(ASPM):c.10332-6del rs200839523
NM_018136.5(ASPM):c.10337del (p.Lys3446fs) rs1553325275
NM_018136.5(ASPM):c.10369del (p.Glu3457fs) rs773107901
NM_018136.5(ASPM):c.1113C>G (p.Phe371Leu)
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1235_1239del (p.Lys412fs) rs1291666293
NM_018136.5(ASPM):c.1390T>C (p.Phe464Leu) rs1553227739
NM_018136.5(ASPM):c.1409_1411delinsTT (p.Pro470fs) rs1571630284
NM_018136.5(ASPM):c.1597AAT[1] (p.Asn534del) rs2125113860
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1697C>A (p.Ser566Ter) rs555866170
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1921+257_1921+259del rs200309104
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2027-13del rs773675080
NM_018136.5(ASPM):c.2173+76del rs35659894
NM_018136.5(ASPM):c.2174-114T>G rs4915345
NM_018136.5(ASPM):c.2174-303_2174-302del rs201492897
NM_018136.5(ASPM):c.2419+306G>A rs116303796
NM_018136.5(ASPM):c.2419+6delinsTCTT rs1064795163
NM_018136.5(ASPM):c.2487+125C>A rs113682374
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
NM_018136.5(ASPM):c.2629+4_2629+7del rs1433248622
NM_018136.5(ASPM):c.2746G>A (p.Asp916Asn) rs747141877
NM_018136.5(ASPM):c.2761-100_2761-97del rs150344996
NM_018136.5(ASPM):c.2770G>T (p.Glu924Ter) rs749462358
NM_018136.5(ASPM):c.2922T>A (p.Cys974Ter) rs886041720
NM_018136.5(ASPM):c.2936+132_2936+133dup rs200280533
NM_018136.5(ASPM):c.2936+132dup rs200280533
NM_018136.5(ASPM):c.2947G>T (p.Glu983Ter) rs1571616951
NM_018136.5(ASPM):c.297+265_297+266del rs563345090
NM_018136.5(ASPM):c.297+274AT[10] rs71131744
NM_018136.5(ASPM):c.297+274AT[7] rs71131744
NM_018136.5(ASPM):c.297+274AT[8] rs71131744
NM_018136.5(ASPM):c.297+274AT[9] rs71131744
NM_018136.5(ASPM):c.3056G>A (p.Arg1019Gln) rs780791970
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3083-37C>G rs117983032
NM_018136.5(ASPM):c.3088A>G (p.Thr1030Ala) rs1553225949
NM_018136.5(ASPM):c.3168+168A>G rs4915338
NM_018136.5(ASPM):c.3168+168AT[8] rs34471103
NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter) rs139317695
NM_018136.5(ASPM):c.3354T>G (p.Asp1118Glu) rs1553225852
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3428dup (p.Leu1144fs) rs886041721
NM_018136.5(ASPM):c.3547T>A (p.Ser1183Thr) rs1085307705
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3569T>C (p.Leu1190Pro) rs781537691
NM_018136.5(ASPM):c.3715A>G (p.Met1239Val)
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.3803G>A (p.Arg1268Lys) rs1316929291
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.4034A>C (p.Lys1345Thr)
NM_018136.5(ASPM):c.4066-10C>A rs767134892
NM_018136.5(ASPM):c.4066-222A>T rs112887421
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4175G>C (p.Arg1392Pro) rs765050426
NM_018136.5(ASPM):c.4216_4217delinsTT (p.Ala1406Phe) rs1064796504
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4414C>T (p.Gln1472Ter) rs2125096662
NM_018136.5(ASPM):c.4451A>T (p.Tyr1484Phe) rs955343480
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4732C>T (p.Arg1578Ter) rs753406334
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile) rs1657332165
NM_018136.5(ASPM):c.5101_5102insG (p.Leu1701fs) rs1064793707
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5164A>T (p.Arg1722Ter)
NM_018136.5(ASPM):c.523_524dup (p.Asn176fs) rs1553228009
NM_018136.5(ASPM):c.5462T>C (p.Ile1821Thr) rs2125095876
NM_018136.5(ASPM):c.5541G>A (p.Val1847=) rs1553223608
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.5694T>G (p.His1898Gln)
NM_018136.5(ASPM):c.5797G>A (p.Ala1933Thr)
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
NM_018136.5(ASPM):c.6012_6013del (p.Tyr2004_Arg2005delinsTer)
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6183_6184del (p.Lys2062fs) rs750664956
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6416T>C (p.Met2139Thr) rs2125095130
NM_018136.5(ASPM):c.6482A>G (p.Glu2161Gly)
NM_018136.5(ASPM):c.6545_6548del (p.Val2182fs) rs771583813
NM_018136.5(ASPM):c.6624C>A (p.Tyr2208Ter) rs1226333994
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6813G>C (p.Arg2271Ser) rs1057524441
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_018136.5(ASPM):c.7153dup (p.Arg2385fs) rs1553223323
NM_018136.5(ASPM):c.7296dup (p.Ala2433fs) rs876660959
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7437A>C (p.Glu2479Asp) rs1404144902
NM_018136.5(ASPM):c.7476G>T (p.Arg2492Ser)
NM_018136.5(ASPM):c.7667C>T (p.Ala2556Val) rs1411046226
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.7753G>T (p.Glu2585Ter) rs2125094032
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs) rs763800571
NM_018136.5(ASPM):c.77del (p.Gly26fs) rs199422131
NM_018136.5(ASPM):c.8004A>G (p.Ala2668=) rs1242167300
NM_018136.5(ASPM):c.8043dup (p.Arg2682fs) rs876660960
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8599del (p.Gln2867fs) rs876661154
NM_018136.5(ASPM):c.8821-52dup rs199941326
NM_018136.5(ASPM):c.8987+1G>A rs1553326840
NM_018136.5(ASPM):c.8987+39TG[2] rs200804798
NM_018136.5(ASPM):c.8998G>A (p.Val3000Met) rs1280148234
NM_018136.5(ASPM):c.9186T>C (p.Tyr3062=) rs1553326470
NM_018136.5(ASPM):c.9194C>A (p.Ala3065Asp)
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018136.5(ASPM):c.9337del (p.Ala3113fs) rs876660961
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.9444+6CTT[2] rs1343079921
NM_018136.5(ASPM):c.9445-205CA[8] rs35277950
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro) rs2125088445
NM_018136.5(ASPM):c.9636+4A>G rs1131691906
NM_018136.5(ASPM):c.9646A>G (p.Arg3216Gly) rs1656740791
NM_018136.5(ASPM):c.9819A>C (p.Leu3273Phe) rs2125088008
NM_018136.5(ASPM):c.9825C>A (p.His3275Gln) rs1443343127
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018136.5(ASPM):c.9984+204_9984+206del rs199936400

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