ClinVar Miner

List of variants reported as benign for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_004287.4(GOSR2):c.*1115G>A rs758391
NM_004287.4(GOSR2):c.*1519T>C rs4968286
NM_004287.4(GOSR2):c.*1711G>A rs11657819
NM_004287.4(GOSR2):c.*1733A>G rs758392
NM_004287.4(GOSR2):c.*2337T>C rs1052586
NM_004287.4(GOSR2):c.*301T>C rs8078556
NM_004287.4(GOSR2):c.-12G>C rs183199
NM_004287.4(GOSR2):c.-30G>C rs189899
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile) rs2228380
NM_005506.4(SCARB2):c.171T>C (p.Pro57=) rs199895330
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005506.4(SCARB2):c.48G>C (p.Leu16=) rs72857097
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.4(EPM2A):c.719-4G>A rs145030227
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_153026.3(PRICKLE1):c.*1283G>T rs1669933
NM_153026.3(PRICKLE1):c.*1394G>A rs1051453
NM_153026.3(PRICKLE1):c.*261T>C rs1043656
NM_153026.3(PRICKLE1):c.*527G>T rs12658
NM_153026.3(PRICKLE1):c.*91T>C rs1043652
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=) rs571386763
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153033.4(KCTD7):c.*2656A>G rs1860469
NM_153033.4(KCTD7):c.*3033T>C rs1860468
NM_153033.4(KCTD7):c.*3935_*3937CAA[1] rs35961913
NM_153033.4(KCTD7):c.*944C>G rs9791712
NM_153033.4(KCTD7):c.*979C>A rs9791713
NM_153033.4(KCTD7):c.-44C>T rs35526611
NM_198859.4(PRICKLE2):c.*1310C>T rs17069879
NM_198859.4(PRICKLE2):c.*1605T>G rs26938
NM_198859.4(PRICKLE2):c.*1763G>A rs26939
NM_198859.4(PRICKLE2):c.*2772A>G rs27383
NM_198859.4(PRICKLE2):c.*2891C>T rs34723451
NM_198859.4(PRICKLE2):c.*3491A>G rs153730
NM_198859.4(PRICKLE2):c.*4733G>A rs153732
NM_198859.4(PRICKLE2):c.*4797G>A rs153733
NM_198859.4(PRICKLE2):c.*579del rs35195442
NM_198859.4(PRICKLE2):c.*695A>C rs26937
NM_198859.4(PRICKLE2):c.-557C>T rs697287
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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