ClinVar Miner

List of variants in gene ASPM reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 532
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HGVS dbSNP gnomAD frequency
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.8988-42G>A rs41304071 0.30406
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
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.2419+12G>A rs77191836 0.01806
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.2419+313A>G rs115195513 0.01507
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.2751C>T (p.Ala917=) rs33987824 0.01382
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.5206C>G (p.Gln1736Glu) rs62623455 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.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.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.-114C>A rs78280885 0.00121
NM_018136.5(ASPM):c.1732G>A (p.Asp578Asn) rs60950503 0.00119
NM_018136.5(ASPM):c.-177G>A rs80055790 0.00118
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.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_018136.5(ASPM):c.2420-20G>A rs191404122 0.00087
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034 0.00079
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.2275C>T (p.Arg759Trp) rs777867809 0.00064
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.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.3772G>A (p.Ala1258Thr) rs142214506 0.00031
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) rs137890991 0.00030
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.3090A>G (p.Thr1030=) rs144559326 0.00027
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.7114A>G (p.Arg2372Gly) rs190693455 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.8821-12T>C rs370550019 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.5700T>G (p.Ala1900=) rs146673233 0.00019
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_018136.5(ASPM):c.8277A>G (p.Lys2759=) rs148555951 0.00018
NM_018136.5(ASPM):c.10416G>A (p.Thr3472=) rs150108952 0.00016
NM_018136.5(ASPM):c.1980C>T (p.Ile660=) rs151087446 0.00016
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=) rs587783246 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.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.5584A>G (p.Lys1862Glu) rs527602809 0.00014
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=) rs148494695 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.8821-11G>A rs575748460 0.00012
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.502A>C (p.Arg168=) rs147527791 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.9085-3T>C rs201188381 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.2004C>T (p.Thr668=) rs377625262 0.00010
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.9246T>C (p.Ser3082=) rs201050851 0.00010
NM_018136.5(ASPM):c.2174-12G>C rs757488628 0.00009
NM_018136.5(ASPM):c.2994G>A (p.Pro998=) rs554545885 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.7106A>C (p.Gln2369Pro) rs372076208 0.00008
NM_018136.5(ASPM):c.9830-7C>T rs1236570791 0.00008
NM_018136.5(ASPM):c.2328A>T (p.Glu776Asp) rs184969664 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.1388G>A (p.Ser463Asn) rs587783218 0.00006
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.4443A>G (p.Leu1481=) rs374040448 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.761A>G (p.Glu254Gly) rs767536421 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.1788G>A (p.Val596=) rs181045749 0.00005
NM_018136.5(ASPM):c.19G>C (p.Gly7Arg) rs776662758 0.00005
NM_018136.5(ASPM):c.2532C>T (p.Val844=) rs141716537 0.00005
NM_018136.5(ASPM):c.3420C>T (p.Asp1140=) rs186076559 0.00005
NM_018136.5(ASPM):c.350G>A (p.Arg117Gln) rs147420907 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.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.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.441+10T>G rs587783242 0.00004
NM_018136.5(ASPM):c.5472A>G (p.Gln1824=) rs755923607 0.00004
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) rs138727741 0.00004
NM_018136.5(ASPM):c.6795C>T (p.Ala2265=) rs750759285 0.00004
NM_018136.5(ASPM):c.7005C>T (p.His2335=) rs754453682 0.00004
NM_018136.5(ASPM):c.7033T>C (p.Phe2345Leu) rs761572391 0.00004
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=) rs587783262 0.00004
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=) rs544467368 0.00004
NM_018136.5(ASPM):c.8616G>A (p.Thr2872=) rs377167359 0.00004
NM_018136.5(ASPM):c.8691G>T (p.Leu2897=) rs771080907 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.932G>C (p.Ser311Thr) rs202012380 0.00004
NM_018136.5(ASPM):c.10331+18G>A rs571179573 0.00003
NM_018136.5(ASPM):c.1922-5T>C rs1295728710 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.2761-4A>G rs770875836 0.00003
NM_018136.5(ASPM):c.3168+11T>G rs752113162 0.00003
NM_018136.5(ASPM):c.3390+3A>G rs377110373 0.00003
NM_018136.5(ASPM):c.4329A>G (p.Val1443=) rs564951757 0.00003
NM_018136.5(ASPM):c.4488A>G (p.Lys1496=) rs141695023 0.00003
NM_018136.5(ASPM):c.5551A>G (p.Ile1851Val) rs200704986 0.00003
NM_018136.5(ASPM):c.7452A>G (p.Ala2484=) rs145884637 0.00003
NM_018136.5(ASPM):c.7521A>G (p.Ser2507=) rs557610850 0.00003
NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=) rs189678019 0.00003
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) rs587783281 0.00003
NM_018136.5(ASPM):c.861T>C (p.Asn287=) rs139670577 0.00003
NM_018136.5(ASPM):c.8821-9A>G rs375911555 0.00003
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp) rs772813676 0.00003
NM_018136.5(ASPM):c.927A>G (p.Thr309=) rs963153105 0.00003
NM_018136.5(ASPM):c.9726G>A (p.Glu3242=) rs587783294 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.2064C>T (p.Asn688=) rs199588137 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2420-12C>T rs756939363 0.00002
NM_018136.5(ASPM):c.309A>G (p.Lys103=) rs587783229 0.00002
NM_018136.5(ASPM):c.3938G>A (p.Arg1313Lys) rs200733896 0.00002
NM_018136.5(ASPM):c.4033A>G (p.Lys1345Glu) rs747210446 0.00002
NM_018136.5(ASPM):c.4209T>C (p.His1403=) rs776523167 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.5538T>C (p.Ser1846=) rs138311889 0.00002
NM_018136.5(ASPM):c.5735A>G (p.Lys1912Arg) rs770891084 0.00002
NM_018136.5(ASPM):c.582T>C (p.Ala194=) rs556849969 0.00002
NM_018136.5(ASPM):c.6765T>G (p.Ala2255=) rs372117505 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.8383C>G (p.Gln2795Glu) rs776299348 0.00002
NM_018136.5(ASPM):c.8838T>C (p.Tyr2946=) rs746637313 0.00002
NM_018136.5(ASPM):c.9444+9C>A rs374543021 0.00002
NM_018136.5(ASPM):c.9626T>C (p.Ile3209Thr) rs1057523398 0.00002
NM_018136.5(ASPM):c.9637-20C>T rs376437905 0.00002
NM_018136.5(ASPM):c.9834A>G (p.Val3278=) rs201072395 0.00002
NM_018136.5(ASPM):c.10113A>C (p.Lys3371Asn) rs767471866 0.00001
NM_018136.5(ASPM):c.1076A>G (p.His359Arg) rs534221332 0.00001
NM_018136.5(ASPM):c.1302T>G (p.Val434=) rs1362146924 0.00001
NM_018136.5(ASPM):c.1567A>G (p.Ser523Gly) rs767198870 0.00001
NM_018136.5(ASPM):c.1698G>A (p.Ser566=) rs372072744 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.1989A>G (p.Ala663=) rs774842102 0.00001
NM_018136.5(ASPM):c.2139T>C (p.Pro713=) rs746872796 0.00001
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) rs763288947 0.00001
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile) rs778251863 0.00001
NM_018136.5(ASPM):c.297+10A>G rs770381141 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.3168+7T>G rs370546641 0.00001
NM_018136.5(ASPM):c.3169-12T>C rs1322697936 0.00001
NM_018136.5(ASPM):c.3195A>G (p.Gln1065=) rs757423960 0.00001
NM_018136.5(ASPM):c.3247A>G (p.Ile1083Val) rs772918163 0.00001
NM_018136.5(ASPM):c.3477C>T (p.Asp1159=) rs780036327 0.00001
NM_018136.5(ASPM):c.3846A>G (p.Leu1282=) rs745539946 0.00001
NM_018136.5(ASPM):c.4008A>G (p.Leu1336=) rs181201233 0.00001
NM_018136.5(ASPM):c.4029G>A (p.Leu1343=) rs138508558 0.00001
NM_018136.5(ASPM):c.4854T>G (p.Ala1618=) rs1571602243 0.00001
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) rs772751994 0.00001
NM_018136.5(ASPM):c.497A>G (p.Asn166Ser) rs199520703 0.00001
NM_018136.5(ASPM):c.5226C>T (p.Tyr1742=) rs780801872 0.00001
NM_018136.5(ASPM):c.5454C>A (p.Arg1818=) rs1029597546 0.00001
NM_018136.5(ASPM):c.5476A>G (p.Ile1826Val) rs750236721 0.00001
NM_018136.5(ASPM):c.5850G>A (p.Ala1950=) rs537962201 0.00001
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) rs763984813 0.00001
NM_018136.5(ASPM):c.6129C>T (p.Cys2043=) rs752566786 0.00001
NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His) rs1183851640 0.00001
NM_018136.5(ASPM):c.6882A>G (p.Arg2294=) rs560754851 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.69G>A (p.Gly23=) rs762856685 0.00001
NM_018136.5(ASPM):c.7149A>G (p.Arg2383=) rs1328600183 0.00001
NM_018136.5(ASPM):c.7206A>G (p.Arg2402=) rs749944950 0.00001
NM_018136.5(ASPM):c.7564T>C (p.Leu2522=) rs1179002848 0.00001
NM_018136.5(ASPM):c.7578T>C (p.Asn2526=) rs774126283 0.00001
NM_018136.5(ASPM):c.7752A>G (p.Gln2584=) rs767030089 0.00001
NM_018136.5(ASPM):c.7950A>G (p.Thr2650=) rs758042126 0.00001
NM_018136.5(ASPM):c.8079A>G (p.Thr2693=) rs370471247 0.00001
NM_018136.5(ASPM):c.8094C>T (p.Phe2698=) rs1657158609 0.00001
NM_018136.5(ASPM):c.8202C>T (p.Asn2734=) rs751417978 0.00001
NM_018136.5(ASPM):c.8330G>C (p.Cys2777Ser) rs1445505219 0.00001
NM_018136.5(ASPM):c.8349G>A (p.Gln2783=) rs764359670 0.00001
NM_018136.5(ASPM):c.8388G>A (p.Glu2796=) rs746942806 0.00001
NM_018136.5(ASPM):c.8555A>G (p.Tyr2852Cys) rs758945213 0.00001
NM_018136.5(ASPM):c.857T>C (p.Val286Ala) rs1553227891 0.00001
NM_018136.5(ASPM):c.8733C>T (p.Ser2911=) rs1571596795 0.00001
NM_018136.5(ASPM):c.9303A>G (p.Glu3101=) rs970808820 0.00001
NM_018136.5(ASPM):c.9567G>A (p.Gln3189=) rs1329510118 0.00001
NM_018136.5(ASPM):c.10005A>C (p.Ala3335=)
NM_018136.5(ASPM):c.1005A>G (p.Val335=)
NM_018136.5(ASPM):c.1008A>G (p.Thr336=)
NM_018136.5(ASPM):c.10126T>C (p.Leu3376=)
NM_018136.5(ASPM):c.10161+13_10161+16del rs797045308
NM_018136.5(ASPM):c.10296C>T (p.Ile3432=)
NM_018136.5(ASPM):c.1029T>C (p.Phe343=)
NM_018136.5(ASPM):c.10332-13T>C rs1558319794
NM_018136.5(ASPM):c.10332-40_10332-38del rs537718986
NM_018136.5(ASPM):c.10332-6del rs200839523
NM_018136.5(ASPM):c.10335T>G (p.Leu3445=)
NM_018136.5(ASPM):c.10374A>G (p.Glu3458=) rs2125085174
NM_018136.5(ASPM):c.1074A>T (p.Ala358=)
NM_018136.5(ASPM):c.1170T>A (p.Ile390=)
NM_018136.5(ASPM):c.1242A>G (p.Pro414=)
NM_018136.5(ASPM):c.1380T>C (p.Asn460=)
NM_018136.5(ASPM):c.1390T>C (p.Phe464Leu) rs1553227739
NM_018136.5(ASPM):c.1617A>G (p.Glu539=)
NM_018136.5(ASPM):c.1632T>C (p.Tyr544=)
NM_018136.5(ASPM):c.1680C>T (p.Asn560=)
NM_018136.5(ASPM):c.1689A>G (p.Thr563=)
NM_018136.5(ASPM):c.1698G>C (p.Ser566=)
NM_018136.5(ASPM):c.1731C>T (p.Ser577=)
NM_018136.5(ASPM):c.1767A>T (p.Ala589=) rs2125113701
NM_018136.5(ASPM):c.1921+257_1921+259del rs200309104
NM_018136.5(ASPM):c.1922-9T>C
NM_018136.5(ASPM):c.1926A>G (p.Leu642=) rs2125112419
NM_018136.5(ASPM):c.1980C>A (p.Ile660=) rs151087446
NM_018136.5(ASPM):c.1983T>C (p.Ala661=)
NM_018136.5(ASPM):c.2017T>C (p.Leu673=)
NM_018136.5(ASPM):c.2027-13del rs773675080
NM_018136.5(ASPM):c.2027-17C>A rs368979133
NM_018136.5(ASPM):c.2027-17C>T rs368979133
NM_018136.5(ASPM):c.2174-303_2174-302del rs201492897
NM_018136.5(ASPM):c.2174-4C>G rs777766951
NM_018136.5(ASPM):c.2214T>C (p.His738=) rs1020164709
NM_018136.5(ASPM):c.2226T>C (p.Val742=)
NM_018136.5(ASPM):c.2377C>A (p.Arg793=) rs779018406
NM_018136.5(ASPM):c.2385T>C (p.Ile795=)
NM_018136.5(ASPM):c.2419+13C>T
NM_018136.5(ASPM):c.2419+18A>C
NM_018136.5(ASPM):c.2419+306G>A rs116303796
NM_018136.5(ASPM):c.2419+6delinsTCTT rs1064795163
NM_018136.5(ASPM):c.2420-11A>T
NM_018136.5(ASPM):c.2436C>T (p.Val812=)
NM_018136.5(ASPM):c.2487+125C>A rs113682374
NM_018136.5(ASPM):c.2487+18del rs752298948
NM_018136.5(ASPM):c.2488-12A>C
NM_018136.5(ASPM):c.2520T>C (p.Asp840=)
NM_018136.5(ASPM):c.2562C>G (p.Arg854=)
NM_018136.5(ASPM):c.2592G>A (p.Glu864=) rs769421796
NM_018136.5(ASPM):c.2629+11C>T
NM_018136.5(ASPM):c.2630-14G>A rs2125107558
NM_018136.5(ASPM):c.2630-20T>C
NM_018136.5(ASPM):c.2634T>C (p.His878=)
NM_018136.5(ASPM):c.2760+12A>G
NM_018136.5(ASPM):c.2761-10T>C
NM_018136.5(ASPM):c.27C>G (p.Gly9=)
NM_018136.5(ASPM):c.2892C>T (p.Ala964=)
NM_018136.5(ASPM):c.2907C>T (p.Ala969=)
NM_018136.5(ASPM):c.2936+11_2936+14del rs745619939
NM_018136.5(ASPM):c.2936+17G>T
NM_018136.5(ASPM):c.297+15dup
NM_018136.5(ASPM):c.297+265_297+266del rs563345090
NM_018136.5(ASPM):c.297+7C>T rs1571633657
NM_018136.5(ASPM):c.3042A>G (p.Gln1014=)
NM_018136.5(ASPM):c.3056G>A (p.Arg1019Gln) rs780791970
NM_018136.5(ASPM):c.3078G>A (p.Glu1026=)
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+168AT[8] rs34471103
NM_018136.5(ASPM):c.3168+18C>T rs2125105490
NM_018136.5(ASPM):c.3204A>G (p.Glu1068=) rs2125105237
NM_018136.5(ASPM):c.3303G>A (p.Arg1101=)
NM_018136.5(ASPM):c.3328A>G (p.Ser1110Gly)
NM_018136.5(ASPM):c.3354T>G (p.Asp1118Glu) rs1553225852
NM_018136.5(ASPM):c.3471A>G (p.Pro1157=) rs749353893
NM_018136.5(ASPM):c.3519A>G (p.Gln1173=)
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.3588A>G (p.Ala1196=)
NM_018136.5(ASPM):c.3599-12C>T rs567865981
NM_018136.5(ASPM):c.3599-20C>T
NM_018136.5(ASPM):c.3687A>G (p.Gly1229=) rs2125104275
NM_018136.5(ASPM):c.3741+12A>G
NM_018136.5(ASPM):c.3742-15G>C
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.3759G>A (p.Leu1253=)
NM_018136.5(ASPM):c.3819A>C (p.Ile1273=)
NM_018136.5(ASPM):c.3873G>A (p.Glu1291=) rs1571612019
NM_018136.5(ASPM):c.3900A>G (p.Gln1300=)
NM_018136.5(ASPM):c.3948T>A (p.Val1316=)
NM_018136.5(ASPM):c.4020G>A (p.Lys1340=)
NM_018136.5(ASPM):c.4056A>G (p.Ser1352=)
NM_018136.5(ASPM):c.4065+10C>T
NM_018136.5(ASPM):c.4066-10C>A rs767134892
NM_018136.5(ASPM):c.4066-18C>T
NM_018136.5(ASPM):c.4066-222A>T rs112887421
NM_018136.5(ASPM):c.4066-4C>T
NM_018136.5(ASPM):c.4083T>C (p.Tyr1361=)
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4119T>C (p.Tyr1373=)
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)
NM_018136.5(ASPM):c.420A>C (p.Ala140=) rs1557966450
NM_018136.5(ASPM):c.4242A>G (p.Gln1414=)
NM_018136.5(ASPM):c.4276A>G (p.Ile1426Val)
NM_018136.5(ASPM):c.4343T>C (p.Ile1448Thr)
NM_018136.5(ASPM):c.442-4G>T rs1571631775
NM_018136.5(ASPM):c.4524A>G (p.Lys1508=)
NM_018136.5(ASPM):c.456T>C (p.Asp152=)
NM_018136.5(ASPM):c.4806T>C (p.Tyr1602=)
NM_018136.5(ASPM):c.4881A>G (p.Ala1627=)
NM_018136.5(ASPM):c.4926A>G (p.Ala1642=)
NM_018136.5(ASPM):c.4962C>T (p.His1654=)
NM_018136.5(ASPM):c.510A>C (p.Ser170=)
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5160A>G (p.Gln1720=)
NM_018136.5(ASPM):c.5469A>G (p.Gln1823=)
NM_018136.5(ASPM):c.5497T>A (p.Ser1833Thr)
NM_018136.5(ASPM):c.5541G>A (p.Val1847=) rs1553223608
NM_018136.5(ASPM):c.5580G>A (p.Ala1860=)
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
NM_018136.5(ASPM):c.573A>C (p.Pro191=) rs763655631
NM_018136.5(ASPM):c.5760T>C (p.Phe1920=)
NM_018136.5(ASPM):c.5800T>C (p.Trp1934Arg)
NM_018136.5(ASPM):c.5916A>G (p.Lys1972=)
NM_018136.5(ASPM):c.6042T>C (p.Asn2014=)
NM_018136.5(ASPM):c.6075A>G (p.Val2025=)
NM_018136.5(ASPM):c.6241A>G (p.Lys2081Glu) rs587783256
NM_018136.5(ASPM):c.6347T>A (p.Met2116Lys)
NM_018136.5(ASPM):c.6363T>G (p.Thr2121=)
NM_018136.5(ASPM):c.6462T>C (p.Tyr2154=)
NM_018136.5(ASPM):c.6468T>G (p.Gly2156=)
NM_018136.5(ASPM):c.6510T>G (p.Val2170=)
NM_018136.5(ASPM):c.6585C>T (p.Leu2195=)
NM_018136.5(ASPM):c.6769A>C (p.Arg2257=)
NM_018136.5(ASPM):c.6813G>C (p.Arg2271Ser) rs1057524441
NM_018136.5(ASPM):c.6843A>G (p.Arg2281=)
NM_018136.5(ASPM):c.6852T>A (p.Ser2284=) rs1557946154
NM_018136.5(ASPM):c.6852T>C (p.Ser2284=) rs1557946154
NM_018136.5(ASPM):c.6963A>G (p.Ser2321=) rs1169109101
NM_018136.5(ASPM):c.7054A>G (p.Met2352Val)
NM_018136.5(ASPM):c.7110A>C (p.Ala2370=)
NM_018136.5(ASPM):c.7126C>T (p.Leu2376=)
NM_018136.5(ASPM):c.7134G>A (p.Arg2378=)
NM_018136.5(ASPM):c.717C>T (p.Leu239=)
NM_018136.5(ASPM):c.7215G>A (p.Lys2405=)
NM_018136.5(ASPM):c.7261T>G (p.Leu2421Val)
NM_018136.5(ASPM):c.7401T>G (p.Ser2467=)
NM_018136.5(ASPM):c.7425G>A (p.Lys2475=)
NM_018136.5(ASPM):c.7565_7566delinsGG (p.Leu2522Trp) rs386638268
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.7675G>A (p.Val2559Ile)
NM_018136.5(ASPM):c.7683A>G (p.Gln2561=)
NM_018136.5(ASPM):c.7755A>G (p.Glu2585=)
NM_018136.5(ASPM):c.7767A>C (p.Ala2589=)
NM_018136.5(ASPM):c.7817C>A (p.Thr2606Asn) rs587783271
NM_018136.5(ASPM):c.7830A>C (p.Ala2610=) rs111475965
NM_018136.5(ASPM):c.7848C>T (p.Asn2616=)
NM_018136.5(ASPM):c.78C>T (p.Gly26=)
NM_018136.5(ASPM):c.7926G>A (p.Lys2642=)
NM_018136.5(ASPM):c.796G>A (p.Val266Ile)
NM_018136.5(ASPM):c.7998C>T (p.Thr2666=) rs1026432286
NM_018136.5(ASPM):c.8004A>G (p.Ala2668=) rs1242167300
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.8034C>G (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.8049G>A (p.Lys2683=)
NM_018136.5(ASPM):c.8106C>T (p.His2702=)
NM_018136.5(ASPM):c.8265A>G (p.Arg2755=)
NM_018136.5(ASPM):c.8283A>G (p.Val2761=)
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.8316A>G (p.Gln2772=) rs1305859807
NM_018136.5(ASPM):c.8372G>C (p.Gly2791Ala)
NM_018136.5(ASPM):c.8427A>G (p.Ala2809=) rs2125093506
NM_018136.5(ASPM):c.8454A>G (p.Ala2818=)
NM_018136.5(ASPM):c.8475T>C (p.Phe2825=) rs1553327529
NM_018136.5(ASPM):c.8562A>G (p.Arg2854=)
NM_018136.5(ASPM):c.8589T>C (p.Ala2863=)
NM_018136.5(ASPM):c.8625C>G (p.Thr2875=)
NM_018136.5(ASPM):c.8643A>G (p.Leu2881=)
NM_018136.5(ASPM):c.8820+17_8820+21del
NM_018136.5(ASPM):c.8820+20A>G
NM_018136.5(ASPM):c.8821-52dup rs199941326
NM_018136.5(ASPM):c.8850A>G (p.Lys2950=)
NM_018136.5(ASPM):c.8987+11A>G
NM_018136.5(ASPM):c.8987+19G>T
NM_018136.5(ASPM):c.8987+39TG[2] rs200804798
NM_018136.5(ASPM):c.8988-7T>C
NM_018136.5(ASPM):c.9041T>C (p.Ile3014Thr)
NM_018136.5(ASPM):c.9046C>T (p.Pro3016Ser)
NM_018136.5(ASPM):c.9084+14A>G
NM_018136.5(ASPM):c.9085-19T>C
NM_018136.5(ASPM):c.9092G>A (p.Arg3031Gln)
NM_018136.5(ASPM):c.9123A>G (p.Arg3041=)
NM_018136.5(ASPM):c.9159A>G (p.Lys3053=)
NM_018136.5(ASPM):c.9186T>C (p.Tyr3062=) rs1553326470
NM_018136.5(ASPM):c.9252T>A (p.Val3084=)
NM_018136.5(ASPM):c.9270G>C (p.Val3090=)
NM_018136.5(ASPM):c.9294+16T>C rs2125089419
NM_018136.5(ASPM):c.9294+18G>A
NM_018136.5(ASPM):c.9294+18G>T
NM_018136.5(ASPM):c.9295-5T>A
NM_018136.5(ASPM):c.9314A>G (p.Lys3105Arg) rs1656801765
NM_018136.5(ASPM):c.9333C>T (p.Phe3111=)
NM_018136.5(ASPM):c.9345A>G (p.Ala3115=)
NM_018136.5(ASPM):c.9394C>T (p.Leu3132=)
NM_018136.5(ASPM):c.9435C>T (p.Ile3145=)
NM_018136.5(ASPM):c.9444+6CTT[2] rs1343079921
NM_018136.5(ASPM):c.9444+9C>T rs374543021
NM_018136.5(ASPM):c.9446G>T (p.Arg3149Ile) rs1656767645
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro) rs2125088445
NM_018136.5(ASPM):c.9540G>A (p.Gln3180=) rs530083972
NM_018136.5(ASPM):c.9546T>C (p.Asn3182=)
NM_018136.5(ASPM):c.9555A>G (p.Ala3185=)
NM_018136.5(ASPM):c.9579C>T (p.Arg3193=) rs1571588969
NM_018136.5(ASPM):c.9624C>A (p.Ile3208=)
NM_018136.5(ASPM):c.9636+19G>A
NM_018136.5(ASPM):c.9637-19T>C
NM_018136.5(ASPM):c.9807T>C (p.Ile3269=)
NM_018136.5(ASPM):c.9829+10T>C
NM_018136.5(ASPM):c.9830-16T>G
NM_018136.5(ASPM):c.9830-17T>G
NM_018136.5(ASPM):c.9830-17_9830-16insG
NM_018136.5(ASPM):c.9830-20_9830-18del
NM_018136.5(ASPM):c.9830-28GT[4] rs749305180
NM_018136.5(ASPM):c.9954T>C (p.Tyr3318=)
NM_018136.5(ASPM):c.9984+204_9984+206del rs199936400
NM_018136.5(ASPM):c.9985-9C>G rs1571587031
NM_018136.5(ASPM):c.9C>T (p.Asn3=)

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