ClinVar Miner

List of variants in gene NHLRC1 reported as uncertain significance for Lafora disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP
NM_198586.3(NHLRC1):c.*153A>T
NM_198586.3(NHLRC1):c.*175T>C
NM_198586.3(NHLRC1):c.*210T>C
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*326C>T rs369668171
NM_198586.3(NHLRC1):c.*327G>C
NM_198586.3(NHLRC1):c.*332G>T rs140122442
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*38G>T
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*442G>C rs555214908
NM_198586.3(NHLRC1):c.*537T>C
NM_198586.3(NHLRC1):c.*61C>A rs886061252
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*797A>G rs886061250
NM_198586.3(NHLRC1):c.*837G>A rs536257194
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) rs752045674
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro) rs764691077
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr) rs539307365
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr)
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn) rs1085307861
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg)
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly) rs367649330
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr)
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe) rs747276703
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp)
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln) rs371072212
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser)
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met) rs140164729
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala)
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser) rs200214191
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723

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.