ClinVar Miner

List of variants in gene AGO2 reported as pathogenic for Lessel-Kreienkamp syndrome

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012154.5(AGO2):c.1070C>T (p.Thr357Met) rs2073092496
NM_012154.5(AGO2):c.1091T>C (p.Met364Thr) rs2073092234
NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg) rs2072681689
NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr) rs2072680461

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