ClinVar Miner

List of variants in gene ASPM reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018136.5(ASPM):c.9272G>A (p.Arg3091His) rs147005963 0.00059
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu) rs140119882 0.00054
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) rs150684410 0.00030
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00029
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys) rs200202166 0.00029
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg) rs201927596 0.00018
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His) rs143092798 0.00016
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr) rs189918817 0.00016
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018136.5(ASPM):c.4135T>C (p.Ser1379Pro) rs768625023 0.00010
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00009
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) rs148338547 0.00009
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe) rs371321801 0.00008
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) rs371861473 0.00006
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His) rs141240137 0.00003
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys) rs367946511 0.00003
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr) rs181039922 0.00003
NM_018136.5(ASPM):c.4024A>G (p.Lys1342Glu) rs779744390 0.00003
NM_018136.5(ASPM):c.9167C>A (p.Ala3056Asp) rs758869894 0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro) rs375985254 0.00003
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys) rs759534488 0.00002
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser) rs765798033 0.00002
NM_018136.5(ASPM):c.6545T>G (p.Val2182Gly) rs765139526 0.00002
NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly) rs373818179 0.00002
NM_018136.5(ASPM):c.7426A>G (p.Lys2476Glu) rs539679809 0.00002
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018136.5(ASPM):c.1648C>A (p.Pro550Thr) rs764977482 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg) rs372956877 0.00001
NM_018136.5(ASPM):c.302A>G (p.Lys101Arg) rs876660958 0.00001
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu) rs587783244 0.00001
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe) rs1464543547 0.00001
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) rs937207468 0.00001
NM_018136.5(ASPM):c.6686G>C (p.Arg2229Thr) rs745714332 0.00001
NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val) rs140656421 0.00001
NM_018136.5(ASPM):c.8371G>A (p.Gly2791Ser) rs966129910 0.00001
NM_018136.5(ASPM):c.8577G>C (p.Gln2859His) rs766154891 0.00001
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His) rs776868381 0.00001
NM_018136.5(ASPM):c.9383A>G (p.Tyr3128Cys) rs140119849 0.00001
NM_018136.5(ASPM):c.10331+5G>T rs368843607
NM_018136.5(ASPM):c.10369del (p.Glu3457fs) rs773107901
NM_018136.5(ASPM):c.1113C>G (p.Phe371Leu)
NM_018136.5(ASPM):c.1597AAT[1] (p.Asn534del) rs2125113860
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
NM_018136.5(ASPM):c.2746G>A (p.Asp916Asn) rs747141877
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3569T>C (p.Leu1190Pro) rs781537691
NM_018136.5(ASPM):c.3715A>G (p.Met1239Val)
NM_018136.5(ASPM):c.3803G>A (p.Arg1268Lys) rs1316929291
NM_018136.5(ASPM):c.4034A>C (p.Lys1345Thr)
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4175G>C (p.Arg1392Pro) rs765050426
NM_018136.5(ASPM):c.4216_4217delinsTT (p.Ala1406Phe) rs1064796504
NM_018136.5(ASPM):c.4451A>T (p.Tyr1484Phe) rs955343480
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile) rs1657332165
NM_018136.5(ASPM):c.5462T>C (p.Ile1821Thr) rs2125095876
NM_018136.5(ASPM):c.5694T>G (p.His1898Gln)
NM_018136.5(ASPM):c.5797G>A (p.Ala1933Thr)
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
NM_018136.5(ASPM):c.6416T>C (p.Met2139Thr) rs2125095130
NM_018136.5(ASPM):c.6482A>G (p.Glu2161Gly)
NM_018136.5(ASPM):c.7437A>C (p.Glu2479Asp) rs1404144902
NM_018136.5(ASPM):c.7476G>T (p.Arg2492Ser)
NM_018136.5(ASPM):c.8998G>A (p.Val3000Met) rs1280148234
NM_018136.5(ASPM):c.9194C>A (p.Ala3065Asp)
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro) rs36004306
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro) rs2125088445
NM_018136.5(ASPM):c.9636+4A>G rs1131691906
NM_018136.5(ASPM):c.9646A>G (p.Arg3216Gly) rs1656740791
NM_018136.5(ASPM):c.9819A>C (p.Leu3273Phe) rs2125088008
NM_018136.5(ASPM):c.9825C>A (p.His3275Gln) rs1443343127

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