ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
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.9697C>T (p.Arg3233Ter) rs199422194 0.00001
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.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs) rs1240081512
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
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.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148

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