ClinVar Miner

List of variants reported as pathogenic for Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive by Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer) rs754565020
NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter) rs1376927760

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