ClinVar Miner

List of variants studied for Lafora disease by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_198586.3(NHLRC1):c.*621T>A rs10949481 0.08640
NM_198586.3(NHLRC1):c.*336G>A rs10949482 0.06918
NM_198586.3(NHLRC1):c.*626C>T rs10949480 0.06100
NM_198586.3(NHLRC1):c.*237T>C rs73379118 0.01527
NM_198586.3(NHLRC1):c.*85T>A rs73379121 0.01526
NM_198586.3(NHLRC1):c.*276G>C rs11966748 0.01453
NM_198586.3(NHLRC1):c.*344A>T rs147528518 0.00663
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_198586.3(NHLRC1):c.*320G>A rs79197160 0.00352
NM_198586.3(NHLRC1):c.*875T>C rs72839174 0.00296
NM_198586.3(NHLRC1):c.*332G>T rs140122442 0.00201
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_198586.3(NHLRC1):c.*326C>T rs369668171 0.00144
NM_198586.3(NHLRC1):c.*886G>A rs146342540 0.00093
NM_198586.3(NHLRC1):c.*720T>C rs141863990 0.00071
NM_198586.3(NHLRC1):c.*442G>C rs555214908 0.00069
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035 0.00022
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723 0.00021
NM_198586.3(NHLRC1):c.*38G>T rs377500729 0.00020
NM_198586.3(NHLRC1):c.*837G>A rs536257194 0.00014
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696 0.00013
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00011
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544 0.00009
NM_198586.3(NHLRC1):c.*797A>G rs886061250 0.00007
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_198586.3(NHLRC1):c.*210T>C rs1370146880 0.00002
NM_198586.3(NHLRC1):c.*537T>C rs935643502 0.00001
NM_198586.3(NHLRC1):c.*61C>A rs886061252 0.00001
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582 0.00001
NM_198586.3(NHLRC1):c.*153A>T rs895212001
NM_198586.3(NHLRC1):c.*175T>C rs1783727115
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*327G>C rs375143655
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln) rs764691077
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) rs370573413
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg) rs1783745635
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253

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.