ClinVar Miner

List of variants reported as likely pathogenic for Primary autosomal recessive microcephaly 9

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Total variants: 4
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HGVS dbSNP
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn) rs760130069
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001194998.2(CEP152):c.780del (p.Asn260fs) rs1567024512
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717

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