ClinVar Miner

List of variants reported as uncertain significance for Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr) rs137978189 0.00027
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) rs143751880 0.00013
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu) rs200337116 0.00012
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met) rs376497260 0.00006
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu) rs138573287 0.00006
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val) rs769768770 0.00005
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln) rs780348130 0.00004
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His) rs199616806 0.00004
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser) rs184790106 0.00002
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val) rs781034991 0.00002
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His) rs1303886490 0.00001
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) rs755134167 0.00001
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His) rs1728346222

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.