List of variants reported as pathogenic for Microcephaly 5, primary, autosomal recessive by Revvity Omics, Revvity

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)	rs137852994	0.00015
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)	rs587783227	0.00002
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)	rs751326753	0.00001
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)	rs587783215
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)	rs145489194
NM_018136.5(ASPM):c.2581dup (p.Ile861fs)	rs2125107857
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)	rs199422153
NM_018136.5(ASPM):c.434del (p.Lys145fs)	rs2125114846
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs)	rs2125096622
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)	rs886041282
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)	rs587783263
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)	rs199422173
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs)	rs199422196
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter)	rs2125087894

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