ClinVar Miner

List of variants in gene ASPM reported as likely benign by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396

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