ClinVar Miner

List of variants reported as benign for Progressive myoclonic epilepsy

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_004287.5(GOSR2):c.*301T>C rs8078556 0.93627
NM_198859.4(PRICKLE2):c.*1605T>G rs26938 0.93091
NM_198859.4(PRICKLE2):c.*2772A>G rs27383 0.92477
NM_198859.4(PRICKLE2):c.*4733G>A rs153732 0.90732
NM_198859.4(PRICKLE2):c.*4797G>A rs153733 0.90729
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_198859.4(PRICKLE2):c.*695A>C rs26937 0.54681
NM_004287.5(GOSR2):c.*2337T>C rs1052586 0.48306
NM_004287.5(GOSR2):c.*1519T>C rs4968286 0.44908
NM_004287.5(GOSR2):c.*1733A>G rs758392 0.41414
NM_004287.5(GOSR2):c.*1115G>A rs758391 0.38725
NM_198859.4(PRICKLE2):c.*3491A>G rs153730 0.35921
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_198859.4(PRICKLE2):c.*1763G>A rs26939 0.33203
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_005506.4(SCARB2):c.1113+14T>A rs35369082 0.21009
NM_198859.4(PRICKLE2):c.*2797A>T rs35969433 0.18557
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_198859.4(PRICKLE2):c.-557C>T rs697287 0.17712
NM_198859.4(PRICKLE2):c.*1310C>T rs17069879 0.16935
NM_198859.4(PRICKLE2):c.*2891C>T rs34723451 0.15467
NM_198859.4(PRICKLE2):c.*2724C>A rs12494731 0.14074
NM_198859.4(PRICKLE2):c.*2447G>A rs56262708 0.07615
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_005506.4(SCARB2):c.48G>C (p.Leu16=) rs72857097 0.04875
NM_198859.4(PRICKLE2):c.*1589G>A rs62249882 0.04161
NM_198859.4(PRICKLE2):c.*2567A>T rs62249881 0.02734
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile) rs2228380 0.02529
NM_198859.4(PRICKLE2):c.*3333T>C rs72874609 0.02403
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_198859.4(PRICKLE2):c.-68G>A rs150393747 0.01201
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476 0.01101
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258 0.00858
NM_198859.4(PRICKLE2):c.*1277C>G rs17069880 0.00857
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386 0.00619
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_198859.4(PRICKLE2):c.*1044C>T rs111362297 0.00452
NM_005506.4(SCARB2):c.1239+14C>T rs143699909 0.00432
NM_005506.4(SCARB2):c.171T>C (p.Pro57=) rs199895330 0.00232
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_005506.4(SCARB2):c.704+16T>C rs199686576 0.00148
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) rs143754727 0.00052
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237 0.00041
NM_005670.4(EPM2A):c.718+19C>G rs370750611 0.00040
NM_005506.4(SCARB2):c.275+7C>T rs777137419 0.00026
NM_004287.5(GOSR2):c.94+7A>C rs376231923 0.00016
NM_005506.4(SCARB2):c.275+20T>C rs377180838 0.00009
NM_004287.5(GOSR2):c.*1711G>A rs11657819
NM_004287.5(GOSR2):c.-12G>C rs183199
NM_004287.5(GOSR2):c.-30G>C rs189899
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu) rs199930484
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser)
NM_004287.5(GOSR2):c.477+19del rs755765859
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.5(GOSR2):c.95-17T>C rs553054493
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.719-8del
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_153033.4(KCTD7):c.*3935_*3937CAA[1] rs35961913
NM_198859.4(PRICKLE2):c.*4238C>T rs14056
NM_198859.4(PRICKLE2):c.*579del rs35195442

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