ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys) rs150868783 0.00131
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His) rs1007895502 0.00003
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu) rs368575149
NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg) rs1275679740
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile)
NM_001854.4(COL11A1):c.1796A>G (p.Asp599Gly) rs2101851276
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys) rs1259912377

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.