ClinVar Miner

List of variants in gene NHLRC1 reported as pathogenic for Lafora disease

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) rs78324544
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) rs1783750860
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs) rs1217276014
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
NM_198586.3(NHLRC1):c.583del (p.Asp195fs) rs2150703022
NM_198586.3(NHLRC1):c.612del (p.Phe204fs) rs1171412241
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs) rs2150702964
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.799del (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer) rs1193841505

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