ClinVar Miner

List of variants reported as uncertain significance for Left ventricular hypertrophy by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) rs140037748 0.00011
NM_024422.6(DSC2):c.2648T>G (p.Phe883Cys) rs374178074 0.00001
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val) rs878855018
NM_020433.5(JPH2):c.1888A>C (p.Lys630Gln) rs1569180680

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.