ClinVar Miner

List of variants in gene combination DNM1, LOC113839516 reported as uncertain significance for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.293G>A (p.Arg98His) rs748195071 0.00002
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn) rs1229779896 0.00001
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly) rs1206732749 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004408.4(DNM1):c.384C>T (p.His128=) rs535527521 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu) rs780514615 0.00001
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile) rs2131148741
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly) rs1316212573
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu) rs776104715
NM_004408.4(DNM1):c.352G>A (p.Val118Met) rs1834758362
NM_004408.4(DNM1):c.359_361dup (p.Ile120_Asn121insIle)
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
NM_004408.4(DNM1):c.427G>C (p.Val143Leu) rs1834788549
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys) rs1554772974
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln) rs2131152872
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
NM_004408.4(DNM1):c.588G>A (p.Gln196=) rs1834794265
NM_004408.4(DNM1):c.589+4G>A
NM_004408.4(DNM1):c.589+4G>T rs751407306
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)

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.