ClinVar Miner

List of variants studied for Microcephaly 20, primary, autosomal recessive by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser) rs370591311 0.00008
NM_014875.3(KIF14):c.1979+2C>T
NM_014875.3(KIF14):c.378_383dup (p.Thr127_Asp128insGluThr)
NM_014875.3(KIF14):c.4353+7T>A

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