ClinVar Miner

List of variants in gene CENPJ studied for Primary autosomal recessive microcephaly 6; Seckel syndrome 4

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Total variants: 6
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HGVS dbSNP
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys) rs145679691
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp) rs151299406
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.5(CENPJ):c.444+3A>G rs587783411
NM_018451.5(CENPJ):c.600G>T (p.Gln200His) rs200061825

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