ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_018136.5(ASPM):c.2629+3A>G rs758509567 0.00002
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.2715_2717delinsAATGAGTC (p.Ile906fs)
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter) rs2125093662
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)

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