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: 6

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.1199del (p.Asn400fs)	rs2527403805
NM_018136.5(ASPM):c.5216T>C (p.Val1739Ala)
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs)	rs587783259
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)	rs1488146761
NM_018136.5(ASPM):c.7779del (p.Lys2593fs)
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)	rs199422173

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