ClinVar Miner

List of variants in gene ASPM reported by GeneReviews

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
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.5136C>A (p.Tyr1712Ter) rs148294838 0.00003
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) rs137852996 0.00002
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.8668C>T (p.Gln2890Ter) rs199422181 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.1002del (p.Leu334_Val335insTer) rs199422136
NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter) rs199422201
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
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.1406_1413del (p.Asn469fs) rs199422142
NM_018136.5(ASPM):c.1590del (p.Lys530_Val531insTer) rs199422143
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
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.1990C>T (p.Gln664Ter) rs199422148
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2606C>T (p.Thr869Ile) rs7551108
NM_018136.5(ASPM):c.2761-25A>G rs199422149
NM_018136.5(ASPM):c.2779T>C (p.Leu927=) rs199422129
NM_018136.5(ASPM):c.2936+5G>T rs199422150
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) rs199422153
NM_018136.5(ASPM):c.3082G>A (p.Gly1028Arg) rs199422154
NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter) rs199422155
NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs) rs199422156
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) rs199422157
NM_018136.5(ASPM):c.3663del (p.Arg1221fs) rs199422158
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3741+1G>A rs199422160
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter) rs199422162
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.440del (p.Lys147fs) rs199422133
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4858_4859del (p.Ile1620fs) rs199422166
NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer) rs199422167
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs) rs199422170
NM_018136.5(ASPM):c.6732del (p.Tyr2245fs) rs199422171
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.7461T>A (p.Ile2487=) rs199422130
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs) rs199422172
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
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.77del (p.Gly26fs) rs199422131
NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs) rs199422174
NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter) rs199422175
NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs) rs199422176
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) rs199422177
NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter) rs199422178
NM_018136.5(ASPM):c.8378del (p.Met2793fs) rs199422179
NM_018136.5(ASPM):c.848C>T (p.Ser283Phe) rs199422128
NM_018136.5(ASPM):c.8508_8509del (p.Lys2837fs) rs199422180
NM_018136.5(ASPM):c.8844del (p.Lys2949fs) rs199422182
NM_018136.5(ASPM):c.9115_9118dup (p.Tyr3040fs) rs199422183
NM_018136.5(ASPM):c.9159del (p.Lys3053fs) rs199422184
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) rs143931757
NM_018136.5(ASPM):c.9507del (p.Ile3170fs) rs199422188
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9595A>T (p.Lys3199Ter) rs199422190
NM_018136.5(ASPM):c.9677dup (p.Cys3226fs) rs199422191
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018136.5(ASPM):c.9686_9690del (p.Ile3229fs) rs199422193
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs) rs199422196
NM_018136.5(ASPM):c.9754del (p.Arg3252fs) rs199422197
NM_018136.5(ASPM):c.9789T>A (p.Tyr3263Ter) rs199422198
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199
NM_018136.5(ASPM):c.9984+1G>T rs199422200
nsv930453

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