ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.1199del (p.Asn400fs)
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173

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