ClinVar Miner

List of variants in gene LEMD3 reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014319.5(LEMD3):c.1801G>T (p.Glu601Ter) rs1565799131
NM_014319.5(LEMD3):c.2023+1G>A rs2136354712
NM_014319.5(LEMD3):c.2023_2023+3del
NM_014319.5(LEMD3):c.2032C>T (p.Arg678Ter) rs2136354792
NM_014319.5(LEMD3):c.2127-1_2129del
NM_014319.5(LEMD3):c.2388-2A>T rs2136358605
NM_014319.5(LEMD3):c.2493+1G>T
NM_014319.5(LEMD3):c.2573-3C>G rs2136358944
NM_014319.5(LEMD3):c.782_787del (p.Ser261_Glu263delinsTer) rs1555191350
NM_014319.5(LEMD3):c.898A>T (p.Lys300Ter) rs1415178710

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