ClinVar Miner

List of variants reported as uncertain significance for Lafora disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*320G>A rs79197160
NM_198586.3(NHLRC1):c.*326C>T rs369668171
NM_198586.3(NHLRC1):c.*332G>T rs140122442
NM_198586.3(NHLRC1):c.*344A>T rs147528518
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*442G>C rs555214908
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198586.3(NHLRC1):c.*61C>A rs886061252
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*720T>C rs141863990
NM_198586.3(NHLRC1):c.*797A>G rs886061250
NM_198586.3(NHLRC1):c.*837G>A rs536257194
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.*875T>C rs72839174
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) rs752045674
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)

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