ClinVar Miner

List of variants reported for Seckel syndrome 6 by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter) rs753579827 0.00001
NM_001353108.3(CEP63):c.595del (p.Glu199fs) rs2109591981

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