ClinVar Miner

List of variants reported as pathogenic for Deafness

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) rs1562822565 0.00001
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter) rs367688416 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) rs1565430886
NM_000260.4(MYO7A):c.5326+3A>G rs1565469959
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) rs746667217
NM_000441.2(SLC26A4):c.1264-3C>G rs1562835391
NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) rs1562817529
NM_000441.2(SLC26A4):c.42del (p.Glu15fs) rs1562817224
NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs) rs1561299289
NM_001042702.5(PJVK):c.158C>G (p.Ser53Ter) rs538027448
NM_001042702.5(PJVK):c.162_172del (p.Pro55fs) rs1559366084
NM_001080476.3(GRXCR1):c.655G>A (p.Glu219Lys) rs1560690591
NM_001145026.2(PTPRQ):c.5158_5159del (p.Ile1720fs) rs1565819402
NM_001145026.2(PTPRQ):c.6739-1G>A rs1565855932
NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) rs1559870857
NM_001292063.2(OTOG):c.7199del (p.Cys2400fs) rs1565127413
NM_001384474.1(LOXHD1):c.746G>A (p.Trp249Ter) rs1248889536
NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) rs150529554
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val) rs1557458426
NM_005422.4(TECTA):c.1774G>A (p.Val592Met) rs1565522273
NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) rs755804651
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) rs1564113368
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_138691.3(TMC1):c.1209G>A (p.Trp403Ter) rs773851192
NM_138691.3(TMC1):c.1224+2T>C rs1564555240
NM_138691.3(TMC1):c.1728C>G (p.Asn576Lys) rs761261855
NM_138691.3(TMC1):c.945G>A (p.Trp315Ter) rs1564554255
NM_173477.5(USH1G):c.812del (p.Pro271fs) rs1567939793
NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) rs1558490542
NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) rs1558480402
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) rs767797828

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.