List of variants studied for Microcephaly 5, primary, autosomal recessive by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)	rs587783275	0.00001
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del)	rs1385075246
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)	rs587783215
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)	rs199422147
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)	rs1057520873
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)	rs137852997

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