ClinVar Miner

List of variants in gene POU4F3 reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_002700.3(POU4F3):c.184del (p.Ala62fs)
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) rs1064792854
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro) rs121909057
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe) rs121909056
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs) rs398124631
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) rs398123070

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