ClinVar Miner

List of variants in gene ASPM reported as likely benign for Microcephaly 5, primary, autosomal recessive

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Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_018136.5(ASPM):c.-110C>T rs74981632 0.02032
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala) rs114695225 0.00779
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser) rs114737609 0.00775
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_018136.5(ASPM):c.-28G>A rs111299108 0.00419
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249 0.00378
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_018136.5(ASPM):c.-114C>A rs78280885 0.00121
NM_018136.5(ASPM):c.1732G>A (p.Asp578Asn) rs60950503 0.00119
NM_018136.5(ASPM):c.-177G>A rs80055790 0.00118
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018136.5(ASPM):c.-9G>T rs141108591 0.00105
NM_018136.5(ASPM):c.2420-20G>A rs191404122 0.00087
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.9492T>C (p.Tyr3164=) rs143931757 0.00061
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) rs117963393 0.00059
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp) rs141532484 0.00038
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys) rs201066146 0.00031
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_018136.5(ASPM):c.9006A>G (p.Ala3002=) rs143760252 0.00028
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln) rs148245202 0.00020
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126 0.00019
NM_018136.5(ASPM):c.8277A>G (p.Lys2759=) rs148555951 0.00018
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.5584A>G (p.Lys1862Glu) rs527602809 0.00014
NM_018136.5(ASPM):c.4066-32T>C rs143351980 0.00012
NM_018136.5(ASPM):c.502A>C (p.Arg168=) rs147527791 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.3083-11T>C rs372375601 0.00010
NM_018136.5(ASPM):c.3156G>A (p.Ala1052=) rs143680877 0.00010
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018136.5(ASPM):c.2328A>T (p.Glu776Asp) rs184969664 0.00007
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.7635A>G (p.Lys2545=) rs753881432 0.00005
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=) rs544467368 0.00004
NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=) rs189678019 0.00003
NM_018136.5(ASPM):c.10041G>A (p.Leu3347=) rs191340810 0.00002
NM_018136.5(ASPM):c.309A>G (p.Lys103=) rs587783229 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.2027-13del rs773675080
NM_018136.5(ASPM):c.2027-516G>T

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