List of variants reported as pathogenic for Lessel-Kreienkamp syndrome by OMIM

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Total variants: 6

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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
NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del)	rs2073180302
NM_012154.5(AGO2):c.575T>C (p.Leu192Pro)	rs2073179658

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