ClinVar Miner

List of variants reported as pathogenic for Microcephaly 5, primary, autosomal recessive by Genetic Services Laboratory, University of Chicago

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Total variants: 58
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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.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs) rs1404276011 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs) rs759632528 0.00001
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter) rs1334947797 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 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.9697C>T (p.Arg3233Ter) rs199422194 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.117_118del (p.Leu41fs) rs587783216
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs) rs587783221
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs) rs1553227645
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2936dup (p.Arg980fs) rs797045311
NM_018136.5(ASPM):c.2968del (p.Asp990fs) rs587783228
NM_018136.5(ASPM):c.297+1G>C rs1553228275
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter) rs587783230
NM_018136.5(ASPM):c.3390+3_3390+6del rs797045313
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs) rs769818500
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter) rs587783238
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
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.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.7308dup (p.Val2437fs) rs797045315
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter) rs587783268
NM_018136.5(ASPM):c.7665del (p.Ala2556fs) rs587783269
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter) rs587783272
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs) rs797045316
NM_018136.5(ASPM):c.803_804del (p.Lys268fs) rs587783277
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter) rs587783282
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) rs587783285
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter) rs587783288
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs) rs587783289
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189

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