ClinVar Miner

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

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) rs147622433 0.00003
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs) rs754767041 0.00001
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) rs77424753 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) rs1451306414
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs) rs763800571
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822

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