ClinVar Miner

List of variants in gene ASPM reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 103
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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.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_018136.5(ASPM):c.-28G>A rs111299108 0.00419
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.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
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.5299G>C (p.Ala1767Pro) rs142536561 0.00150
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858 0.00109
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_018136.5(ASPM):c.2420-20G>A rs191404122 0.00087
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034 0.00079
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.9676T>G (p.Cys3226Gly) rs142901223 0.00056
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.1467A>G (p.Arg489=) rs146561469 0.00033
NM_018136.5(ASPM):c.9006A>G (p.Ala3002=) rs143760252 0.00028
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.6514G>A (p.Val2172Ile) rs370590014 0.00016
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=) rs779442940 0.00016
NM_018136.5(ASPM):c.81C>A (p.Pro27=) rs369801034 0.00016
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.9085-3T>C rs201188381 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
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.7106A>C (p.Gln2369Pro) rs372076208 0.00008
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.9471A>G (p.Glu3157=) rs764291332 0.00006
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.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_018136.5(ASPM):c.5472A>G (p.Gln1824=) rs755923607 0.00004
NM_018136.5(ASPM):c.6795C>T (p.Ala2265=) rs750759285 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.932G>C (p.Ser311Thr) rs202012380 0.00004
NM_018136.5(ASPM):c.10331+18G>A rs571179573 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.8986C>T (p.Arg2996Trp) rs772813676 0.00003
NM_018136.5(ASPM):c.9726G>A (p.Glu3242=) rs587783294 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.309A>G (p.Lys103=) rs587783229 0.00002
NM_018136.5(ASPM):c.4033A>G (p.Lys1345Glu) rs747210446 0.00002
NM_018136.5(ASPM):c.489A>G (p.Thr163=) rs372355541 0.00002
NM_018136.5(ASPM):c.5735A>G (p.Lys1912Arg) rs770891084 0.00002
NM_018136.5(ASPM):c.7858C>A (p.Gln2620Lys) rs587783274 0.00002
NM_018136.5(ASPM):c.9626T>C (p.Ile3209Thr) rs1057523398 0.00002
NM_018136.5(ASPM):c.1567A>G (p.Ser523Gly) rs767198870 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.1989A>G (p.Ala663=) rs774842102 0.00001
NM_018136.5(ASPM):c.3247A>G (p.Ile1083Val) rs772918163 0.00001
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) rs772751994 0.00001
NM_018136.5(ASPM):c.497A>G (p.Asn166Ser) rs199520703 0.00001
NM_018136.5(ASPM):c.5226C>T (p.Tyr1742=) rs780801872 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.8330G>C (p.Cys2777Ser) rs1445505219 0.00001
NM_018136.5(ASPM):c.857T>C (p.Val286Ala) rs1553227891 0.00001
NM_018136.5(ASPM):c.10161+13_10161+16del rs797045308
NM_018136.5(ASPM):c.1390T>C (p.Phe464Leu) rs1553227739
NM_018136.5(ASPM):c.3056G>A (p.Arg1019Gln) rs780791970
NM_018136.5(ASPM):c.3088A>G (p.Thr1030Ala) rs1553225949
NM_018136.5(ASPM):c.3354T>G (p.Asp1118Glu) rs1553225852
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.4066-10C>A rs767134892
NM_018136.5(ASPM):c.5541G>A (p.Val1847=) rs1553223608
NM_018136.5(ASPM):c.6241A>G (p.Lys2081Glu) rs587783256
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.7817C>A (p.Thr2606Asn) rs587783271
NM_018136.5(ASPM):c.8004A>G (p.Ala2668=) rs1242167300
NM_018136.5(ASPM):c.8475T>C (p.Phe2825=) rs1553327529
NM_018136.5(ASPM):c.9186T>C (p.Tyr3062=) rs1553326470

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