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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.9294+2T>C	rs199503603	0.00014
NM_018136.5(ASPM):c.9444+1G>T	rs1656796807	0.00001
NM_018136.5(ASPM):c.1485dup (p.Thr496fs)
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs)	rs1240081512
NM_018136.5(ASPM):c.4515del (p.Lys1505fs)
NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)
NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)	rs587783280
NM_018136.5(ASPM):c.9109del (p.Gln3037fs)	rs2125089566

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