ClinVar Miner

List of variants reported as likely pathogenic for X-linked mixed hearing loss with perilymphatic gusher

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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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_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 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

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