ClinVar Miner

List of variants in gene POU3F4 reported as pathogenic for X-linked nonsyndromic hearing loss

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) rs1454033665
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) rs878853242
NM_000307.5(POU3F4):c.249dup (p.Gly84fs) rs1569280138
NM_000307.5(POU3F4):c.300dup (p.Val101fs)
NM_000307.5(POU3F4):c.340dup (p.Trp114fs) rs2147996471
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) rs104894920
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs) rs876657719
NM_000307.5(POU3F4):c.607_610dup (p.Arg204fs)
NM_000307.5(POU3F4):c.609_610del (p.Arg204fs) rs2147996672
NM_000307.5(POU3F4):c.648del (p.Leu217fs) rs1555984570
NM_000307.5(POU3F4):c.65_66del (p.Ser22fs) rs2147996200
NM_000307.5(POU3F4):c.669T>A (p.Tyr223Ter) rs1199790524
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
NM_000307.5(POU3F4):c.845G>T (p.Arg282Leu) rs1060499806
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) rs730882189
NM_000307.5(POU3F4):c.877C>G (p.Leu293Val) rs780027419
NM_000307.5(POU3F4):c.896del (p.Lys299fs) rs267606974
NM_000307.5(POU3F4):c.916C>T (p.Gln306Ter)
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) rs387906502
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) rs104894921
NM_000307.5(POU3F4):c.950dup (p.Leu317fs) rs398122516
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) rs104894924
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) rs1569280385
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923

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