ClinVar Miner

List of variants reported as likely pathogenic for X-linked nonsyndromic hearing loss

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) rs724160019 0.00002
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) rs724160023 0.00001
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) rs724160017 0.00001
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000307.5(POU3F4):c.923T>A (p.Ile308Asn)
NM_000307.5(POU3F4):c.968G>A (p.Arg323His) rs727505246
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly) rs926775037
NM_004208.4(AIFM1):c.-123G>C rs724160014
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) rs724160026
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) rs724160025
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) rs724160022
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) rs724160024
NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)
NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) rs724160015
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) rs724160016
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) rs724160018
NM_014332.3(SMPX):c.132+1G>A rs2147390444
NM_014332.3(SMPX):c.133-1G>A rs1060499590
NM_014332.3(SMPX):c.217del (p.Ile73fs)
NM_014332.3(SMPX):c.29del (p.Asn10fs) rs2092830420

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.