ClinVar Miner

List of variants reported as likely benign for Lafora disease

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ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.*320G>A rs79197160 0.00352
NM_198586.3(NHLRC1):c.*875T>C rs72839174 0.00296
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala) rs143537405 0.00133
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00108
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_198586.3(NHLRC1):c.*720T>C rs141863990 0.00071
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172 0.00067
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723 0.00021
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696 0.00013
NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn) rs770587249 0.00013
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=) rs765575310 0.00011
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00011
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544 0.00009
NM_198586.3(NHLRC1):c.933G>T (p.Gly311=) rs527299943 0.00008
NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=) rs760322295 0.00005
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=) rs754756237 0.00005
NM_198586.3(NHLRC1):c.723C>A (p.Leu241=) rs748203595 0.00005
NM_198586.3(NHLRC1):c.1017T>C (p.Ser339=) rs747655441 0.00003
NM_198586.3(NHLRC1):c.855G>C (p.Leu285=) rs375475285 0.00003
NM_198586.3(NHLRC1):c.111G>A (p.Gln37=) rs143893542 0.00002
NM_198586.3(NHLRC1):c.579C>T (p.Ala193=) rs202217857 0.00002
NM_198586.3(NHLRC1):c.1065G>A (p.Pro355=) rs752799460 0.00001
NM_198586.3(NHLRC1):c.1137G>T (p.Val379=) rs1179677260 0.00001
NM_198586.3(NHLRC1):c.207A>G (p.Pro69=) rs778080945 0.00001
NM_198586.3(NHLRC1):c.24C>T (p.Ser8=) rs763202331 0.00001
NM_198586.3(NHLRC1):c.285A>G (p.Ser95=) rs1057521817 0.00001
NM_198586.3(NHLRC1):c.393A>C (p.Gly131=) rs1280323559 0.00001
NM_198586.3(NHLRC1):c.528C>T (p.Tyr176=) rs1403101337 0.00001
NM_198586.3(NHLRC1):c.582C>T (p.Gly194=) rs1258101648 0.00001
NM_198586.3(NHLRC1):c.663G>A (p.Val221=) rs374108909 0.00001
NM_198586.3(NHLRC1):c.690G>A (p.Val230=) rs1245001963 0.00001
NM_198586.3(NHLRC1):c.720C>T (p.His240=) rs1161999387 0.00001
NM_198586.3(NHLRC1):c.729C>T (p.Asp243=) rs146420615 0.00001
NM_198586.3(NHLRC1):c.741G>A (p.Ala247=) rs571973789 0.00001
NM_198586.3(NHLRC1):c.819C>T (p.Thr273=) rs1220104886 0.00001
NM_198586.3(NHLRC1):c.843C>T (p.His281=) rs762001530 0.00001
NM_198586.3(NHLRC1):c.882G>T (p.Val294=) rs1314207581 0.00001
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=) rs2150702721
NM_198586.3(NHLRC1):c.1065G>C (p.Pro355=) rs752799460
NM_198586.3(NHLRC1):c.108G>A (p.Arg36=) rs903344687
NM_198586.3(NHLRC1):c.1185G>A (p.Gly395=) rs760726977
NM_198586.3(NHLRC1):c.123G>A (p.Pro41=) rs1161024300
NM_198586.3(NHLRC1):c.123G>C (p.Pro41=) rs1161024300
NM_198586.3(NHLRC1):c.126C>T (p.Arg42=)
NM_198586.3(NHLRC1):c.129C>T (p.Asn43=) rs1438368642
NM_198586.3(NHLRC1):c.135C>G (p.Ser45=) rs2150703342
NM_198586.3(NHLRC1):c.138C>T (p.Cys46=) rs1489142985
NM_198586.3(NHLRC1):c.147G>A (p.Val49=)
NM_198586.3(NHLRC1):c.150C>T (p.Val50=)
NM_198586.3(NHLRC1):c.171C>T (p.Ala57=) rs2150703320
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) rs370573413
NM_198586.3(NHLRC1):c.195C>T (p.Ala65=) rs370573413
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.3(NHLRC1):c.234C>T (p.Cys78=) rs755232826
NM_198586.3(NHLRC1):c.243C>T (p.Ser81=) rs1174745955
NM_198586.3(NHLRC1):c.276C>G (p.Leu92=) rs1203128687
NM_198586.3(NHLRC1):c.303G>A (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.318C>T (p.Ala106=) rs2150703205
NM_198586.3(NHLRC1):c.321C>T (p.Ala107=) rs772440533
NM_198586.3(NHLRC1):c.336A>G (p.Gly112=)
NM_198586.3(NHLRC1):c.354C>T (p.His118=) rs2150703182
NM_198586.3(NHLRC1):c.360C>T (p.Phe120=) rs754279385
NM_198586.3(NHLRC1):c.372G>A (p.Gly124=)
NM_198586.3(NHLRC1):c.372G>C (p.Gly124=)
NM_198586.3(NHLRC1):c.378G>C (p.Leu126=)
NM_198586.3(NHLRC1):c.399G>T (p.Ala133=) rs1382326927
NM_198586.3(NHLRC1):c.414G>C (p.Thr138=)
NM_198586.3(NHLRC1):c.423C>G (p.Val141=)
NM_198586.3(NHLRC1):c.45C>A (p.Leu15=) rs770992577
NM_198586.3(NHLRC1):c.483G>A (p.Ala161=) rs1783746446
NM_198586.3(NHLRC1):c.507C>T (p.Asp169=)
NM_198586.3(NHLRC1):c.525G>A (p.Arg175=) rs1414840416
NM_198586.3(NHLRC1):c.618G>A (p.Gln206=) rs747084695
NM_198586.3(NHLRC1):c.630C>A (p.Val210=) rs2150702986
NM_198586.3(NHLRC1):c.69G>A (p.Leu23=) rs1170288661
NM_198586.3(NHLRC1):c.702G>A (p.Ala234=)
NM_198586.3(NHLRC1):c.705G>A (p.Glu235=) rs1783741826
NM_198586.3(NHLRC1):c.711G>T (p.Gly237=)
NM_198586.3(NHLRC1):c.738C>T (p.Phe246=) rs1561881781
NM_198586.3(NHLRC1):c.747G>A (p.Gly249=) rs1582029822
NM_198586.3(NHLRC1):c.756G>A (p.Arg252=) rs2150702898
NM_198586.3(NHLRC1):c.757A>C (p.Arg253=)
NM_198586.3(NHLRC1):c.807G>A (p.Val269=)
NM_198586.3(NHLRC1):c.831G>A (p.Ala277=)
NM_198586.3(NHLRC1):c.831G>C (p.Ala277=) rs556216487
NM_198586.3(NHLRC1):c.831G>T (p.Ala277=) rs556216487
NM_198586.3(NHLRC1):c.837G>A (p.Leu279=)
NM_198586.3(NHLRC1):c.969C>A (p.Ser323=)
NM_198586.3(NHLRC1):c.9C>G (p.Ala3=)

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