ClinVar Miner

List of variants studied for Lafora disease

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NM_005670.3(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.3(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.3(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.3(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.3(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.3(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.3(EPM2A):c.322C>T (p.Arg108Cys) rs137852915
NM_005670.3(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_005670.3(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.3(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.3(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.3(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.335dup (p.Tyr112Terfs) rs587776553
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
NM_005670.4(EPM2A):c.950dup (p.Gln319Profs) rs587776554
NM_198586.2(NHLRC1):c.*237T>C rs73379118
NM_198586.2(NHLRC1):c.*248C>A rs182779486
NM_198586.2(NHLRC1):c.*248C>G rs182779486
NM_198586.2(NHLRC1):c.*276G>C rs11966748
NM_198586.2(NHLRC1):c.*320G>A rs79197160
NM_198586.2(NHLRC1):c.*326C>T rs369668171
NM_198586.2(NHLRC1):c.*332G>T rs140122442
NM_198586.2(NHLRC1):c.*336G>A rs10949482
NM_198586.2(NHLRC1):c.*344A>T rs147528518
NM_198586.2(NHLRC1):c.*358_*361delAGTA rs550375620
NM_198586.2(NHLRC1):c.*406A>G rs886061251
NM_198586.2(NHLRC1):c.*442G>C rs555214908
NM_198586.2(NHLRC1):c.*482C>G rs114713758
NM_198586.2(NHLRC1):c.*55G>C rs11966789
NM_198586.2(NHLRC1):c.*61C>A rs886061252
NM_198586.2(NHLRC1):c.*621T>A rs10949481
NM_198586.2(NHLRC1):c.*626C>T rs10949480
NM_198586.2(NHLRC1):c.*662C>G rs150615281
NM_198586.2(NHLRC1):c.*720T>C rs141863990
NM_198586.2(NHLRC1):c.*797A>G rs886061250
NM_198586.2(NHLRC1):c.*837G>A rs536257194
NM_198586.2(NHLRC1):c.*85T>A rs73379121
NM_198586.2(NHLRC1):c.*875T>A rs72839174
NM_198586.2(NHLRC1):c.*875T>C rs72839174
NM_198586.2(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858
NM_198586.2(NHLRC1):c.103C>G (p.His35Asp) rs752045674
NM_198586.2(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116
NM_198586.2(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582
NM_198586.2(NHLRC1):c.107G>C (p.Arg36Pro)
NM_198586.2(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
NM_198586.2(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.2(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752
NM_198586.2(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576
NM_198586.2(NHLRC1):c.228G>T (p.Arg76=) rs1409114977
NM_198586.2(NHLRC1):c.27G>A (p.Gly9=) rs765575310
NM_198586.2(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.2(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096
NM_198586.2(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_198586.2(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314
NM_198586.2(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483
NM_198586.2(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.2(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.2(NHLRC1):c.406C>T (p.Pro136Ser)
NM_198586.2(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405
NM_198586.2(NHLRC1):c.422T>C (p.Val141Ala) rs143537405
NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934
NM_198586.2(NHLRC1):c.468_469delAG (p.Gly158Argfs) rs587776542
NM_198586.2(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198586.2(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.2(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.2(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.2(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253
NM_198586.2(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242
NM_198586.2(NHLRC1):c.584A>G (p.Asp195Gly)
NM_198586.2(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.2(NHLRC1):c.642A>G (p.Gln214=) rs754756237
NM_198586.2(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172
NM_198586.2(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.2(NHLRC1):c.713C>T (p.Ser238Phe)
NM_198586.2(NHLRC1):c.755G>A (p.Arg252Gln)
NM_198586.2(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575
NM_198586.2(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.2(NHLRC1):c.874A>T (p.Thr292Ser)
NM_198586.2(NHLRC1):c.882G>T (p.Val294=) rs1314207581
NM_198586.2(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.2(NHLRC1):c.969C>T (p.Ser323=) rs142941035
NM_198586.2(NHLRC1):c.990G>A (p.Gln330=) rs148553723
NM_198586.2(NHLRC1):c.992del (p.Gly331Glufs) rs587776543

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