ClinVar Miner

List of variants reported as uncertain significance for Microcephaly 5, primary, autosomal recessive by Genome-Nilou Lab

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ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu) rs140119882 0.00054
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg) rs147457270 0.00040
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.523G>A (p.Val175Ile) rs201934616 0.00021
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) rs147466865 0.00021
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00021
NM_018136.5(ASPM):c.676C>T (p.Pro226Ser) rs147830520 0.00020
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys) rs112997359 0.00019
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) rs146959075 0.00019
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.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp) rs112946633 0.00011
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser) rs147839989 0.00010
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys) rs140679756 0.00010
NM_018136.5(ASPM):c.4796G>A (p.Arg1599Gln) rs62623433 0.00009
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr) rs777352982 0.00009
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.9439A>G (p.Ile3147Val) rs150906798 0.00009
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val) rs767859450 0.00008
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe) rs371321801 0.00008
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu) rs753961004 0.00007
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala) rs542967760 0.00007
NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr) rs761768584 0.00006
NM_018136.5(ASPM):c.1184A>G (p.Gln395Arg) rs147820821 0.00006
NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr) rs149162314 0.00006
NM_018136.5(ASPM):c.3955G>T (p.Ala1319Ser) rs376541100 0.00006
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) rs371861473 0.00006
NM_018136.5(ASPM):c.5471A>G (p.Gln1824Arg) rs62623448 0.00006
NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr) rs200800956 0.00006
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp) rs150424130 0.00006
NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln) rs747515767 0.00006
NM_018136.5(ASPM):c.2532C>T (p.Val844=) rs141716537 0.00005
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp) rs370907931 0.00005
NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys) rs142865061 0.00005
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile) rs764918001 0.00005
NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln) rs777169562 0.00005
NM_018136.5(ASPM):c.10006G>A (p.Val3336Ile) rs951343801 0.00004
NM_018136.5(ASPM):c.10279A>G (p.Ile3427Val) rs886045758 0.00004
NM_018136.5(ASPM):c.1474A>G (p.Ile492Val) rs149075351 0.00004
NM_018136.5(ASPM):c.1681G>A (p.Glu561Lys) rs763648822 0.00004
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_018136.5(ASPM):c.4457A>G (p.Tyr1486Cys) rs368020945 0.00004
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp) rs770335356 0.00004
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys) rs149376906 0.00004
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His) rs141240137 0.00003
NM_018136.5(ASPM):c.1825C>G (p.Pro609Ala) rs760610573 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.4867A>G (p.Met1623Val) rs369399401 0.00003
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe) rs371020085 0.00003
NM_018136.5(ASPM):c.7799A>G (p.Asn2600Ser) rs371852516 0.00003
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr) rs775263946 0.00003
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp) rs142024644 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.10295T>A (p.Ile3432Asn) rs794727443 0.00002
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys) rs759534488 0.00002
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg) rs763381773 0.00002
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser) rs765798033 0.00002
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys) rs199874115 0.00002
NM_018136.5(ASPM):c.4444C>T (p.Arg1482Trp) rs371997190 0.00002
NM_018136.5(ASPM):c.4591C>T (p.Arg1531Cys) rs780484121 0.00002
NM_018136.5(ASPM):c.5849C>T (p.Ala1950Val) rs368693433 0.00002
NM_018136.5(ASPM):c.6058A>G (p.Thr2020Ala) rs587783253 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.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln) rs537930821 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr) rs757587073 0.00001
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile) rs766146033 0.00001
NM_018136.5(ASPM):c.193C>A (p.Leu65Met) rs780727023 0.00001
NM_018136.5(ASPM):c.2062A>C (p.Asn688His) rs775158833 0.00001
NM_018136.5(ASPM):c.2312G>A (p.Arg771His) rs375059809 0.00001
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg) rs372956877 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala) rs149330414 0.00001
NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp) rs867611929 0.00001
NM_018136.5(ASPM):c.396C>G (p.His132Gln) rs761152464 0.00001
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly) rs769921325 0.00001
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln) rs587783243 0.00001
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu) rs587783244 0.00001
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys) rs751358312 0.00001
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe) rs1464543547 0.00001
NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn) rs1338772800 0.00001
NM_018136.5(ASPM):c.5587A>G (p.Thr1863Ala) rs769813952 0.00001
NM_018136.5(ASPM):c.6172A>G (p.Lys2058Glu) rs774901339 0.00001
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) rs937207468 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln) rs751584273 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.8804G>A (p.Ser2935Asn) rs886045762 0.00001
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His) rs776868381 0.00001
NM_018136.5(ASPM):c.898C>G (p.Pro300Ala) rs200453432 0.00001
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) rs79899243 0.00001
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His) rs201362977 0.00001
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)
NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)
NM_018136.5(ASPM):c.1845_1847del (p.Lys616del) rs750297982
NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)
NM_018136.5(ASPM):c.2042C>T (p.Pro681Leu) rs753945250
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)
NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe) rs755211990
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=) rs868630671
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)
NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile) rs1657362655
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup) rs769728447
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His) rs200681905
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile) rs1657332165
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg) rs140834556
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)
NM_018136.5(ASPM):c.639A>G (p.Ile213Met)
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys) rs1267196794
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys) rs755151801
NM_018136.5(ASPM):c.6716T>C (p.Leu2239Pro) rs548708212
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg) rs2125116158
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn) rs376686304
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)
NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del) rs775391911
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr) rs886045764
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)
NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro) rs36004306
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His) rs145333987

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