ClinVar Miner

List of variants in gene ASPM reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761 0.00153
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu) rs140119882 0.00054
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00049
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.1740C>G (p.Ser580Arg) rs147457270 0.00040
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
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.8966A>G (p.Tyr2989Cys) rs149690383 0.00027
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.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys) rs112997359 0.00019
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_018136.5(ASPM):c.1980C>T (p.Ile660=) rs151087446 0.00016
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr) rs189918817 0.00016
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=) rs148494695 0.00014
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.2994G>A (p.Pro998=) rs554545885 0.00009
NM_018136.5(ASPM):c.4796G>A (p.Arg1599Gln) rs62623433 0.00009
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val) rs767859450 0.00008
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu) rs753961004 0.00007
NM_018136.5(ASPM):c.2641G>A (p.Ala881Thr) rs142743598 0.00006
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) rs371861473 0.00006
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448 0.00006
NM_018136.5(ASPM):c.5471A>G (p.Gln1824Arg) rs62623448 0.00006
NM_018136.5(ASPM):c.5984_5986del (p.Lys1995_Ala1996delinsThr) rs886043659 0.00006
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp) rs150424130 0.00006
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile) rs764918001 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 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.6550C>T (p.Arg2184Trp) rs138727741 0.00004
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr) rs181039922 0.00003
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=) rs537034419 0.00003
NM_018136.5(ASPM):c.4481T>C (p.Ile1494Thr) rs1396783522 0.00003
NM_018136.5(ASPM):c.4867A>G (p.Met1623Val) rs369399401 0.00003
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr) rs775263946 0.00003
NM_018136.5(ASPM):c.8821-9A>G rs375911555 0.00003
NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn) rs794727443 0.00002
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg) rs763381773 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018136.5(ASPM):c.4591C>T (p.Arg1531Cys) rs780484121 0.00002
NM_018136.5(ASPM):c.5939A>G (p.Tyr1980Cys) rs769860568 0.00002
NM_018136.5(ASPM):c.6816A>G (p.Arg2272=) rs769659035 0.00002
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=) rs756622578 0.00002
NM_018136.5(ASPM):c.1A>C (p.Met1Leu) rs767335874 0.00001
NM_018136.5(ASPM):c.2254T>G (p.Ser752Ala) rs794727806 0.00001
NM_018136.5(ASPM):c.4387A>G (p.Lys1463Glu) rs794727211 0.00001
NM_018136.5(ASPM):c.5000G>A (p.Arg1667His) rs754282386 0.00001
NM_018136.5(ASPM):c.5128C>A (p.Gln1710Lys) rs998666143 0.00001
NM_018136.5(ASPM):c.6338T>C (p.Ile2113Thr) rs375913831 0.00001
NM_018136.5(ASPM):c.6759G>A (p.Lys2253=) rs748364690 0.00001
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) rs79899243 0.00001
NM_018136.5(ASPM):c.1238T>A (p.Val413Glu) rs794727514
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
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.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4417T>G (p.Ser1473Ala) rs886043266
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup) rs769728447
NM_018136.5(ASPM):c.4476T>A (p.Val1492=) rs1557948222
NM_018136.5(ASPM):c.4515G>C (p.Lys1505Asn) rs1553223789
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg) rs140834556
NM_018136.5(ASPM):c.6891G>T (p.Arg2297=) rs776527804
NM_018136.5(ASPM):c.7982T>G (p.Leu2661Arg) rs752132953
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.8483T>C (p.Met2828Thr) rs886043946
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro) rs36004306
NM_018136.5(ASPM):c.9573A>G (p.Ala3191=) rs886044195
NM_018136.5(ASPM):c.9830-8dup rs748383126

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