ClinVar Miner

List of variants studied for Left ventricular noncompaction 1 by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00440
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00126
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_001386795.1(DTNA):c.978G>A (p.Lys326=) rs200830541 0.00005
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) rs369043538 0.00001
NM_001386795.1(DTNA):c.1744-10G>T rs192561043

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.