List of variants reported as likely pathogenic for Lafora disease by Invitae

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)	rs780082503	0.00002
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)	rs1783731105
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)	rs200559475
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)	rs1194084403

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