ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss by 3billion, Medical Genetics

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520 0.00002
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_000260.4(MYO7A):c.2557C>T (p.Arg853Cys) rs2135473615
NM_000899.5(KITLG):c.2T>A (p.Met1Lys)
NM_001001331.4(ATP2B2):c.945dup (p.Asp316fs)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter) rs2145813286
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) rs2146025908
NM_001145319.2(PLS1):c.1658T>A (p.Val553Asp) rs1283780796
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.283C>T (p.Arg95Cys) rs2143783076
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) rs2143775617
NM_001614.5(ACTG1):c.859G>A (p.Val287Met) rs2143775561
NM_001614.5(ACTG1):c.914T>C (p.Met305Thr)
NM_001854.4(COL11A1):c.388G>A (p.Glu130Lys) rs2102303130
NM_002700.3(POU4F3):c.325C>T (p.His109Tyr) rs754773365
NM_002700.3(POU4F3):c.479del (p.Gly160fs)
NM_002700.3(POU4F3):c.66del (p.Ser23fs) rs2126960899
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004086.3(COCH):c.113G>A (p.Gly38Asp) rs1391189162
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter) rs1305000119
NM_005422.4(TECTA):c.2012G>A (p.Cys671Tyr) rs2135081400
NM_005422.4(TECTA):c.493A>T (p.Thr165Ser)
NM_005422.4(TECTA):c.5383+5_5383+8del rs2135128814
NM_005612.5(REST):c.3098A>G (p.His1033Arg) rs572949989
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.501G>C (p.Gln167His) rs2140241012
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)
NM_080680.3(COL11A2):c.3031C>A (p.Pro1011Thr) rs997533180
NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr) rs2118299337
NM_177398.4(LMX1A):c.331del (p.Gln111fs) rs2102637875
NM_177398.4(LMX1A):c.595A>G (p.Arg199Gly)

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.