ClinVar Miner

List of variants in gene POU4F3 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
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Total variants: 39
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HGVS dbSNP
NM_002700.3(POU4F3):c.-44C>A rs764967073
NM_002700.3(POU4F3):c.-79C>A rs563020230
NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp) rs762622438
NM_002700.3(POU4F3):c.171C>G (p.Ala57=) rs781289197
NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu)
NM_002700.3(POU4F3):c.184del (p.Ala62fs)
NM_002700.3(POU4F3):c.214C>G (p.His72Asp) rs370712489
NM_002700.3(POU4F3):c.24G>A (p.Gln8=)
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567
NM_002700.3(POU4F3):c.309C>T (p.Leu103=)
NM_002700.3(POU4F3):c.325C>T (p.His109Tyr)
NM_002700.3(POU4F3):c.327C>A (p.His109Gln)
NM_002700.3(POU4F3):c.374C>T (p.Pro125Leu) rs1561590396
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254
NM_002700.3(POU4F3):c.405G>A (p.Pro135=)
NM_002700.3(POU4F3):c.442C>T (p.His148Tyr) rs761965263
NM_002700.3(POU4F3):c.508C>T (p.His170Tyr)
NM_002700.3(POU4F3):c.545C>G (p.Ser182Ter)
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906
NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys) rs886060063
NM_002700.3(POU4F3):c.591G>A (p.Arg197=) rs886060064
NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro)
NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala)
NM_002700.3(POU4F3):c.624G>A (p.Val208=) rs759713394
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro)
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) rs1064792854
NM_002700.3(POU4F3):c.663C>A (p.Gly221=) rs61737151
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro) rs121909057
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp)
NM_002700.3(POU4F3):c.746A>C (p.Gln249Pro)
NM_002700.3(POU4F3):c.792C>T (p.Ser264=) rs149975083
NM_002700.3(POU4F3):c.837G>T (p.Thr279=) rs6885298
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.90C>T (p.Ala30=) rs28994879
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) rs149303333
NM_002700.3(POU4F3):c.966C>G (p.Phe322Leu)
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) rs398123070

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