List of variants studied for Microcephaly 5, primary, autosomal recessive by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter)	rs1657341426	0.00001
NM_018136.5(ASPM):c.10161+1_10161+2del
NM_018136.5(ASPM):c.326dup (p.Asn109fs)
NM_018136.5(ASPM):c.3820C>T (p.Gln1274Ter)
NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter)	rs774143329

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