ClinVar Miner

List of variants in gene ASPM reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 90
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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.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.2791C>T (p.Arg931Ter) rs587783227 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.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 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.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 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_018136.5(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.1386_1387del (p.Tyr462_Ser463delinsTer)
NM_018136.5(ASPM):c.1550_1575dup (p.Gly526fs)
NM_018136.5(ASPM):c.1603_1607del (p.Gln535fs)
NM_018136.5(ASPM):c.1615_1616del (p.Glu539fs) rs1285151453
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.1801del (p.Arg601fs) rs2125113678
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.2093del (p.Lys698fs) rs765613900
NM_018136.5(ASPM):c.2158dup (p.Thr720fs)
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.2710del (p.Arg904fs)
NM_018136.5(ASPM):c.275_290del (p.Ser92fs) rs2125115970
NM_018136.5(ASPM):c.2954_2955del (p.Leu985fs)
NM_018136.5(ASPM):c.3185_3189del (p.Asn1062fs)
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
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.4184G>A (p.Trp1395Ter)
NM_018136.5(ASPM):c.4367G>A (p.Trp1456Ter)
NM_018136.5(ASPM):c.4407del (p.Ile1470fs)
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.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4806T>G (p.Tyr1602Ter)
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.5422_5425del (p.Leu1808fs) rs1403868262
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.5889dup (p.Arg1964fs)
NM_018136.5(ASPM):c.6015_6016del (p.Arg2005fs)
NM_018136.5(ASPM):c.6307_6308del (p.Val2103fs) rs1657248003
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.6692_6693del (p.Ile2231fs)
NM_018136.5(ASPM):c.6712_6715del (p.Asn2237_Lys2238insTer)
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) rs587783259
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.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.718dup (p.Ser240fs)
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.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.77dup (p.Ala28fs) rs199422131
NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter) rs730882076
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) rs199422177
NM_018136.5(ASPM):c.8261_8264del (p.Val2754fs)
NM_018136.5(ASPM):c.8377dup (p.Met2793fs)
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
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.9262del (p.Ala3088fs)
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018136.5(ASPM):c.9337del (p.Ala3113fs) rs876660961
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018136.5(ASPM):c.9789T>G (p.Tyr3263Ter) rs199422198

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