ClinVar Miner

List of variants reported as likely benign for Lafora disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_198586.3(NHLRC1):c.*320G>A rs79197160
NM_198586.3(NHLRC1):c.*720T>C rs141863990
NM_198586.3(NHLRC1):c.*875T>C rs72839174
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=) rs760322295
NM_198586.3(NHLRC1):c.123G>C (p.Pro41=) rs1161024300
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=) rs765575310
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172
NM_198586.3(NHLRC1):c.882G>T (p.Val294=) rs1314207581
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723

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