ClinVar Miner

List of variants studied for Lafora disease by Revvity Omics, Revvity

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00197
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00011
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.322del (p.Arg108fs) rs2128614455
NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)

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