ClinVar Miner

List of variants in gene CENPJ reported as uncertain significance for Seckel syndrome

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.865+12dup rs202014808 0.00004
NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) rs201531824 0.00001
NM_018451.5(CENPJ):c.444+3A>G rs587783411 0.00001
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139

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