List of variants reported as pathogenic for Microcephaly 5, primary, autosomal recessive by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)	rs772050241	0.00001
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)	rs587783215
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)	rs1057520873
NM_018136.5(ASPM):c.688del (p.Glu230fs)	rs1557966012
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)	rs763909256
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs)	rs1571596976
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter)	rs2125088498

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