ClinVar Miner

List of variants in gene DMXL2 studied for auditory system disorder

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378457.1(DMXL2):c.-36A>C rs6493514 0.81214
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=) rs10851500 0.50188
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro) rs12102203 0.49370
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=) rs2278989 0.47808
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=) rs2278990 0.47740
NM_001378457.1(DMXL2):c.8077-22C>T rs7165887 0.46698
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=) rs12592889 0.46637
NM_001378457.1(DMXL2):c.1346-39A>G rs12904173 0.18855
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met) rs17524906 0.18836
NM_001378457.1(DMXL2):c.5051+23G>A rs17524750 0.18767
NM_001378457.1(DMXL2):c.3860G>T (p.Ser1287Ile) rs78240149 0.00190
NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val) rs72729259 0.00054
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp) rs376728796 0.00004
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) rs754786373 0.00003
NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe)
NM_001378457.1(DMXL2):c.2912T>C (p.Ile971Thr) rs929185965
NM_001378457.1(DMXL2):c.430G>A (p.Glu144Lys)
NM_001378457.1(DMXL2):c.4475A>G (p.Lys1492Arg)
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr) rs778580507
NM_001378457.1(DMXL2):c.6833+11del rs11291027
NM_001378457.1(DMXL2):c.7520+35del rs10706765
NM_001378457.1(DMXL2):c.7809-6del rs746074258
NM_001378457.1(DMXL2):c.8219G>A (p.Arg2740His)
NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile)
NM_001378457.1(DMXL2):c.8527-15_8527-11dup rs2039518483
NM_001378457.1(DMXL2):c.918G>T (p.Gln306His) rs2140933776

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.