List of variants reported as pathogenic for Seckel syndrome 5; Microcephaly 9, primary, autosomal recessive

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	rs182018947	0.00048
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)	rs267606717	0.00001
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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