ClinVar Miner

List of variants in gene DNMT1, LOC126862853 studied for autosomal dominant cerebellar ataxia, deafness and narcolepsy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130823.3(DNMT1):c.4656+9G>A rs367724672 0.00058
NM_001130823.3(DNMT1):c.4773+11C>T rs777602633 0.00003
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser) rs768764350 0.00001
NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala) rs1555687655
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) rs2145253354
NM_001130823.3(DNMT1):c.4711C>T (p.Arg1571Cys) rs1461695373

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.