ClinVar Miner

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

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2T>C (p.Met1Thr) rs761447719 0.00001
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter) rs1657341426 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.9444+1G>T rs1656796807 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.10161+1_10161+2del
NM_018136.5(ASPM):c.1485dup (p.Thr496fs)
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
NM_018136.5(ASPM):c.1598_1601del (p.Asn533fs)
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe) rs2125107877
NM_018136.5(ASPM):c.2783del (p.Ala928fs)
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.326dup (p.Asn109fs)
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs) rs1240081512
NM_018136.5(ASPM):c.3742-1G>C
NM_018136.5(ASPM):c.3820C>T (p.Gln1274Ter)
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3879_3880del (p.Lys1294fs)
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4515del (p.Lys1505fs)
NM_018136.5(ASPM):c.4938dup (p.Gln1647fs)
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_018136.5(ASPM):c.532del (p.Thr178fs)
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) rs797045314
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.6115_6118del (p.Lys2038_Arg2039insTer) rs2125095313
NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)
NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) rs745997770
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.804del (p.Val269fs)
NM_018136.5(ASPM):c.8365del (p.Ser2789fs) rs1353421249
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8794del (p.Ile2932fs) rs1160186494
NM_018136.5(ASPM):c.9109del (p.Gln3037fs) rs2125089566
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter) rs774143329
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu) rs201362977

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