ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by OMIM

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) rs375050157
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) rs61753849
NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952
NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro) rs121909306
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup) rs864309476
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495

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.