ClinVar Miner

List of variants studied for Lessel-Kreienkamp syndrome by 3billion, Medical Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012154.5(AGO2):c.1918C>A (p.Gln640Lys)
NM_012154.5(AGO2):c.575T>C (p.Leu192Pro) rs2073179658
NM_012154.5(AGO2):c.586C>T (p.Arg196Ter) rs1005112700

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