ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 86

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001199107.2(TBC1D24):c.643T>G (p.Trp215Gly) rs761347854 0.00001
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.1207-1G>C
NM_001199107.2(TBC1D24):c.1505del (p.Gly502fs)
NM_001199107.2(TBC1D24):c.1526G>C (p.Gly509Ala)
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) rs878853232
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001199107.2(TBC1D24):c.370C>A (p.Gln124Lys) rs2141871461
NM_001199107.2(TBC1D24):c.523G>C (p.Ala175Pro) rs2141871916
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.76G>T (p.Glu26Ter)
NM_001199107.2(TBC1D24):c.877C>T (p.Arg293Cys)
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) rs1351414664
NM_001199107.2(TBC1D24):c.965+1G>A rs1390045914

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.