ClinVar Miner

List of variants in gene ASPM reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) rs147622433 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.349C>T (p.Arg117Ter) rs137852996 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.1353dup (p.Glu452Ter) rs774814318 0.00001
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs) rs1404276011 0.00001
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.2409G>A (p.Trp803Ter) rs1057518269 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.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs) rs759632528 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter) rs1657341426 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.6708T>A (p.Tyr2236Ter) rs778859631 0.00001
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter) rs1334947797 0.00001
NM_018136.5(ASPM):c.727C>T (p.Arg243Ter) rs1463609963 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9645G>A (p.Trp3215Ter) rs1394353328 0.00001
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) rs77424753 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_018136.4(ASPM):c.[10168C>T];[8098C>T]
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.1172T>A (p.Leu391Ter)
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1199del (p.Asn400fs)
NM_018136.5(ASPM):c.1235_1239del (p.Lys412fs) rs1291666293
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) rs199422139
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1386C>G (p.Tyr462Ter) rs1553227742
NM_018136.5(ASPM):c.1386_1387del (p.Tyr462_Ser463delinsTer)
NM_018136.5(ASPM):c.1409_1411delinsTT (p.Pro470fs) rs1571630284
NM_018136.5(ASPM):c.1550_1575dup (p.Gly526fs)
NM_018136.5(ASPM):c.1592_1595del (p.Val531fs) rs2125113873
NM_018136.5(ASPM):c.1599_1606del (p.Asn533fs)
NM_018136.5(ASPM):c.1603_1607del (p.Gln535fs)
NM_018136.5(ASPM):c.1615_1616del (p.Glu539fs) rs1285151453
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.1694del (p.Ser565fs) rs2125113775
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.1726_1729del (p.Lys576fs) rs587783221
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs) rs1553227645
NM_018136.5(ASPM):c.1801del (p.Arg601fs) rs2125113678
NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs)
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1932del (p.Phe645fs) rs2125112411
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2026+2C>G
NM_018136.5(ASPM):c.2085G>A (p.Trp695Ter) rs1553227021
NM_018136.5(ASPM):c.2093del (p.Lys698fs) rs765613900
NM_018136.5(ASPM):c.2158dup (p.Thr720fs)
NM_018136.5(ASPM):c.2217_2221del (p.Ile740fs)
NM_018136.5(ASPM):c.2316_2319del (p.Phe773fs)
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2495dup (p.Tyr832Ter)
NM_018136.5(ASPM):c.2581dup (p.Ile861fs) rs2125107857
NM_018136.5(ASPM):c.2710del (p.Arg904fs)
NM_018136.5(ASPM):c.275_290del (p.Ser92fs) rs2125115970
NM_018136.5(ASPM):c.2760+1G>A rs2125107452
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.2936dup (p.Arg980fs) rs797045311
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2954_2955del (p.Leu985fs)
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.2968del (p.Asp990fs) rs587783228
NM_018136.5(ASPM):c.297+1G>C rs1553228275
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) rs199422153
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3185_3189del (p.Asn1062fs)
NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter) rs139317695
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter) rs587783230
NM_018136.5(ASPM):c.3390+3_3390+6del rs797045313
NM_018136.5(ASPM):c.3428dup (p.Leu1144fs) rs886041721
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs) rs769818500
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) rs199422157
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3741+1G>C
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.3974dup (p.Tyr1325Ter) rs1553225179
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.3979C>T (p.Arg1327Ter) rs886039310
NM_018136.5(ASPM):c.4117del (p.Tyr1373fs)
NM_018136.5(ASPM):c.4184G>A (p.Trp1395Ter)
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4250_4251del (p.Arg1416_Tyr1417insTer) rs1571602991
NM_018136.5(ASPM):c.434del (p.Lys145fs) rs2125114846
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4367G>A (p.Trp1456Ter)
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter) rs2125096695
NM_018136.5(ASPM):c.4407del (p.Ile1470fs)
NM_018136.5(ASPM):c.4414C>T (p.Gln1472Ter) rs2125096662
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs) rs2125096622
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.4606del (p.Gln1536fs)
NM_018136.5(ASPM):c.4693del (p.Val1565fs)
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.4806T>G (p.Tyr1602Ter)
NM_018136.5(ASPM):c.4870delinsTATATTCTGGT (p.Lys1624fs) rs2125096288
NM_018136.5(ASPM):c.5064T>N (p.Thr1688=)
NM_018136.5(ASPM):c.5101_5102insG (p.Leu1701fs) rs1064793707
NM_018136.5(ASPM):c.5164A>T (p.Arg1722Ter)
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.523_524dup (p.Asn176fs) rs1553228009
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs) rs1403868262
NM_018136.5(ASPM):c.5467C>T (p.Gln1823Ter) rs754909135
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs) rs1571601267
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) rs1571600860
NM_018136.5(ASPM):c.5889dup (p.Arg1964fs)
NM_018136.5(ASPM):c.6015_6016del (p.Arg2005fs)
NM_018136.5(ASPM):c.6047_6053del (p.His2015_Leu2016insTer) rs2125095360
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6152del (p.Gln2051fs) rs1189399471
NM_018136.5(ASPM):c.6183_6184del (p.Lys2062fs) rs750664956
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.6307_6308del (p.Val2103fs) rs1657248003
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6513dup (p.Val2172fs) rs1571600045
NM_018136.5(ASPM):c.6545_6548del (p.Val2182fs) rs771583813
NM_018136.5(ASPM):c.6623_6626del (p.Tyr2208fs) rs1571599902
NM_018136.5(ASPM):c.6624C>A (p.Tyr2208Ter) rs1226333994
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6692_6693del (p.Ile2231fs)
NM_018136.5(ASPM):c.6712_6715del (p.Asn2237_Lys2238insTer)
NM_018136.5(ASPM):c.6841_6844del (p.Arg2281fs)
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.691dup (p.Cys231fs)
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) rs1451306414
NM_018136.5(ASPM):c.7049T>A (p.Leu2350Ter) rs2125094632
NM_018136.5(ASPM):c.7105C>T (p.Gln2369Ter) rs751436140
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.718dup (p.Ser240fs)
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.7296dup (p.Ala2433fs) rs876660959
NM_018136.5(ASPM):c.7308dup (p.Val2437fs) rs797045315
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7397C>A (p.Ser2466Ter)
NM_018136.5(ASPM):c.7408A>T (p.Arg2470Ter)
NM_018136.5(ASPM):c.7581_7585del (p.Tyr2527_Arg2529delinsTer) rs765530357
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter) rs587783268
NM_018136.5(ASPM):c.7664_7665del (p.Lys2555fs) rs587783269
NM_018136.5(ASPM):c.7665del (p.Ala2556fs) rs587783269
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
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.77dup (p.Ala28fs) rs199422131
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter) rs587783272
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs) rs797045316
NM_018136.5(ASPM):c.803_804del (p.Lys268fs) rs587783277
NM_018136.5(ASPM):c.8043dup (p.Arg2682fs) rs876660960
NM_018136.5(ASPM):c.804_805del (p.Lys268fs) rs1658666393
NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter) rs730882076
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8141del (p.Ala2714fs) rs2125093720
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter) rs2125093662
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) rs199422177
NM_018136.5(ASPM):c.8195_8196del (p.Arg2732fs)
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) rs1558328287
NM_018136.5(ASPM):c.8261_8264del (p.Val2754fs)
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8377dup (p.Met2793fs)
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs) rs1571596976
NM_018136.5(ASPM):c.8599del (p.Gln2867fs) rs876661154
NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs) rs2125093294
NM_018136.5(ASPM):c.8702del (p.His2901fs)
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter) rs587783282
NM_018136.5(ASPM):c.8829G>A (p.Trp2943Ter) rs886043249
NM_018136.5(ASPM):c.8892G>A (p.Trp2964Ter) rs201285805
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) rs587783285
NM_018136.5(ASPM):c.8987+1G>A rs1553326840
NM_018136.5(ASPM):c.8988-1G>C rs1553326645
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.9159del (p.Lys3053fs) rs199422184
NM_018136.5(ASPM):c.9262del (p.Ala3088fs)
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter) rs774143329
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs) rs587783289
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018136.5(ASPM):c.9337del (p.Ala3113fs) rs876660961
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) rs2125088498
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) rs143931757
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9641T>A (p.Leu3214Ter) rs368682161
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs) rs199422196
NM_018136.5(ASPM):c.9789T>G (p.Tyr3263Ter) rs199422198
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter) rs2125087894
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018136.5(ASPM):c.[1789C>T;2525_2531del]
nsv930453

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