ClinVar Miner

List of variants reported as pathogenic for Progressive myoclonic epilepsy

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046 0.00001
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) rs764802895 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005670.4(EPM2A):c.301+1G>T rs1361221383 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NC_000004.11:g.(?_76481293)_(77700330_?)del
NC_000004.12:g.76163382CT[1]
NC_000006.11:g.(?_145948552)_(145956642_?)del
NC_000006.11:g.(?_146056334)_(146056634_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000017.10:g.(?_44845686)_(45016126_?)del
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000021.8:g.(?_43160998)_(47754702_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NC_000021.8:g.(?_45194083)_(45196150_?)del
NM_000100.4(CSTB):c.121del (p.Val41fs) rs1257171692
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_004287.5(GOSR2):c.161del (p.Leu54fs) rs2146892080
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) rs2146691974
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
NM_004287.5(GOSR2):c.210del (p.Asp71fs) rs2146911959
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
NM_004287.5(GOSR2):c.262del (p.Gln88fs) rs776869841
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) rs1466441723
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) rs1330994397
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) rs780638384
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs) rs2109944333
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.850del (p.Tyr284fs) rs2109942038
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
NM_005506.4(SCARB2):c.956del (p.Leu319fs) rs1732195544
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) rs1170939620
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter) rs750988816
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005670.4(EPM2A):c.301+2T>C
NM_005670.4(EPM2A):c.302-2A>G rs780648601
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) rs1780901751
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) rs1554263320
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) rs1776817138
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs) rs1775923311
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) rs201053542
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) rs137852917
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del) rs2128649765
NM_005670.4(EPM2A):c.934dup (p.Arg312fs) rs2128555980
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)

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