ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543

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