ClinVar Miner

List of variants studied for Microcephaly and chorioretinopathy 2 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014264.5(PLK4):c.926A>G (p.Lys309Arg) rs543250835 0.00009
NM_014264.5(PLK4):c.176A>G (p.Asn59Ser) rs1734999708
NM_014264.5(PLK4):c.2562+1G>C rs1473460404

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