List of variants reported as pathogenic for Microcephaly 5, primary, autosomal recessive by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)	rs587783211	0.00006
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)	rs587783295	0.00004
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)	rs199422146
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)	rs145489194
NM_018136.5(ASPM):c.3741+1G>C
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)	rs199422163
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)	rs199422165
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter)	rs142865061
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)	rs199422173
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8702del (p.His2901fs)

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