ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu) rs1553223646
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256

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