ClinVar Miner

List of variants studied for Seckel syndrome 5; Primary autosomal recessive microcephaly 9

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Total variants: 4
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HGVS dbSNP
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717

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