LOVD - Current system status

2018/07/22 16:36:20 CEST - Sunday, July 22nd 2018

Gene symbol Gene name Total variants Unique variants Patients
EDN3 endothelin 3 22 15 21
EDNRB endothelin receptor type B 34 31 37
MITF microphthalmia-associated transcription factor 56 41 58
PAX3 paired box 3 135 112 145
SOX10 SRY (sex determining region Y)-box 10 82 78 88
  Total of 5 gene entries 329 277 348