ClinVar Miner

List of variants in gene POU3F4 studied for X-linked mixed hearing loss with perilymphatic gusher

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952 0.00110
NM_000307.5(POU3F4):c.*105C>T rs777244703 0.00107
NM_000307.5(POU3F4):c.*192T>C rs775863791 0.00075
NM_000307.5(POU3F4):c.753G>A (p.Leu251=) rs779713849 0.00013
NM_000307.5(POU3F4):c.585A>G (p.Glu195=) rs202020213 0.00011
NM_000307.5(POU3F4):c.*22C>G rs201213510 0.00009
NM_000307.5(POU3F4):c.24C>T (p.Pro8=) rs756362293 0.00005
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) rs770657036 0.00003
NM_000307.5(POU3F4):c.*297T>C rs1297004201 0.00002
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg) rs773169987 0.00002
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val) rs1354177998 0.00001
NM_000307.5(POU3F4):c.*141T>C rs368408951
NM_000307.5(POU3F4):c.*41C>A rs1057516008
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) rs1454033665
NM_000307.5(POU3F4):c.220del (p.Ser74fs)
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.391C>T (p.Leu131Phe) rs1178113212
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.695T>C (p.Ile232Thr) rs397516335
NM_000307.5(POU3F4):c.708= (p.Glu236=) rs5921978
NM_000307.5(POU3F4):c.708_710= (p.Glu236_Ala237=)
NM_000307.5(POU3F4):c.710= (p.Ala237=) rs5921979
NM_000307.5(POU3F4):c.767T>C (p.Leu256Pro)
NM_000307.5(POU3F4):c.80dup (p.Ser29fs)
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
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.854T>C (p.Ile285Thr)
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.923T>A (p.Ile308Asn)
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.968G>A (p.Arg323His) rs727505246
NM_000307.5(POU3F4):c.975G>A (p.Trp325Ter) rs1569280385
NM_000307.5(POU3F4):c.981T>A (p.Cys327Ter)
NM_000307.5(POU3F4):c.983A>G (p.Asn328Ser)
NM_000307.5(POU3F4):c.985C>G (p.Arg329Gly) rs926775037
NM_000307.5(POU3F4):c.985C>T (p.Arg329Ter)
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923

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