ClinVar Miner

List of variants reported as benign for Unverricht-Lundborg syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
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.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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.