ClinVar Miner

List of variants in gene ASPM reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.2173+120A>G rs114887287 0.02280
NC_000001.11:g.197083990C>T rs75841031 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.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.9084+131G>A rs114361901 0.00850
NM_018136.5(ASPM):c.9637-38G>A rs116608360 0.00848
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00824
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.9085-101T>A rs145908430 0.00778
NM_018136.5(ASPM):c.9085-83A>G rs116297575 0.00778
NM_018136.5(ASPM):c.3390+162A>G rs139855488 0.00774
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.3391-298A>G rs138191108 0.00690
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.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.7554A>G (p.Arg2518=) rs140248383 0.00393
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.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.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.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.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.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.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.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.8277A>G (p.Lys2759=) rs148555951 0.00018
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.4975G>T (p.Val1659Phe) rs560847421 0.00014
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu) rs527602809 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.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.9246T>C (p.Ser3082=) rs201050851 0.00010
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.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.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.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.932G>C (p.Ser311Thr) rs202012380 0.00004
NM_018136.5(ASPM):c.10331+18G>A rs571179573 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.5551A>G (p.Ile1851Val) rs200704986 0.00003
NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=) rs189678019 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.4033A>G (p.Lys1345Glu) rs747210446 0.00002
NM_018136.5(ASPM):c.5735A>G (p.Lys1912Arg) rs770891084 0.00002
NM_018136.5(ASPM):c.8383C>G (p.Gln2795Glu) rs776299348 0.00002
NM_018136.5(ASPM):c.9626T>C (p.Ile3209Thr) rs1057523398 0.00002
NM_018136.5(ASPM):c.1076A>G (p.His359Arg) rs534221332 0.00001
NM_018136.5(ASPM):c.1567A>G (p.Ser523Gly) rs767198870 0.00001
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile) rs778251863 0.00001
NM_018136.5(ASPM):c.3247A>G (p.Ile1083Val) rs772918163 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.6457T>C (p.Tyr2153His) rs1183851640 0.00001
NM_018136.5(ASPM):c.7752A>G (p.Gln2584=) rs767030089 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.10332-40_10332-38del rs537718986
NM_018136.5(ASPM):c.10332-6del rs200839523
NM_018136.5(ASPM):c.1390T>C (p.Phe464Leu) rs1553227739
NM_018136.5(ASPM):c.1921+257_1921+259del rs200309104
NM_018136.5(ASPM):c.2027-13del rs773675080
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.297+265_297+266del rs563345090
NM_018136.5(ASPM):c.3056G>A (p.Arg1019Gln) rs780791970
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.3354T>G (p.Asp1118Glu) rs1553225852
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.3742-3dup rs587783236
NM_018136.5(ASPM):c.4066-10C>A rs767134892
NM_018136.5(ASPM):c.4066-222A>T rs112887421
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5541G>A (p.Val1847=) rs1553223608
NM_018136.5(ASPM):c.6813G>C (p.Arg2271Ser) rs1057524441
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.8004A>G (p.Ala2668=) rs1242167300
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.8821-52dup rs199941326
NM_018136.5(ASPM):c.8987+39TG[2] rs200804798
NM_018136.5(ASPM):c.9186T>C (p.Tyr3062=) rs1553326470
NM_018136.5(ASPM):c.9444+6CTT[2] rs1343079921
NM_018136.5(ASPM):c.9984+204_9984+206del rs199936400

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