ClinVar Miner

Variants in gene ASPM with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1303 249 0 88 89 0 4 161

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 16 2 0 0
likely pathogenic 16 0 2 1 0
uncertain significance 2 2 0 85 16
likely benign 0 1 85 0 72
benign 0 0 16 72 0

All variants with conflicting interpretations #

Total variants: 161
Download table as spreadsheet
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.*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
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.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.7565T>G (p.Leu2522Ter) rs62624965 0.00780
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.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.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.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.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.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=) rs142587742 0.00036
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 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.7157A>G (p.His2386Arg) rs137890991 0.00030
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00027
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) rs139317695 0.00026
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.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.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_018136.5(ASPM):c.1980C>T (p.Ile660=) rs151087446 0.00016
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
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.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.1185A>G (p.Gln395=) rs183395856 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.9246T>C (p.Ser3082=) rs201050851 0.00010
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.6551G>A (p.Arg2184Gln) rs200848981 0.00007
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.1579G>C (p.Glu527Gln) rs376058344 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.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) rs138727741 0.00004
NM_018136.5(ASPM):c.7033T>C (p.Phe2345Leu) rs761572391 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.3390+3A>G rs377110373 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.1790G>A (p.Arg597Gln) rs377444313 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.4209T>C (p.His1403=) rs776523167 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 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.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile) rs778251863 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) rs772751994 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.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2936+11_2936+14del rs745619939
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.4066-4C>T
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.5137C>T (p.Arg1713Cys)
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs) rs1403868262
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
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.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8987+39TG[2] rs200804798
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro) rs2125088445
NM_018136.5(ASPM):c.9830-8dup rs748383126

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.