ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic hearing loss 15

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_002700.3(POU4F3):c.90C>T (p.Ala30=) rs28994879 0.02948
NM_002700.3(POU4F3):c.837G>T (p.Thr279=) rs6885298 0.01958
NM_002700.3(POU4F3):c.663C>A (p.Gly221=) rs61737151 0.00511
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00202
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) rs148985828 0.00016
NM_002700.3(POU4F3):c.792C>T (p.Ser264=) rs149975083 0.00016
NM_002700.3(POU4F3):c.214C>G (p.His72Asp) rs370712489 0.00009
NM_002700.3(POU4F3):c.309C>T (p.Leu103=) rs141235724 0.00009
NM_002700.3(POU4F3):c.624G>A (p.Val208=) rs759713394 0.00009
NM_002700.3(POU4F3):c.24G>A (p.Gln8=) rs764308870 0.00006
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567 0.00005
NM_002700.3(POU4F3):c.405G>A (p.Pro135=) rs145372405 0.00005
NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu) rs770000759 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp) rs762622438 0.00001
NM_002700.3(POU4F3):c.171C>G (p.Ala57=) rs781289197 0.00001
NM_002700.3(POU4F3):c.327C>A (p.His109Gln) rs1280898301 0.00001
NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser) rs1760423963 0.00001
NM_002700.3(POU4F3):c.442C>T (p.His148Tyr) rs761965263 0.00001
NM_002700.3(POU4F3):c.499G>A (p.Val167Met) rs1048744959 0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906 0.00001
NM_002700.3(POU4F3):c.591G>A (p.Arg197=) rs886060064 0.00001
NM_002700.3(POU4F3):c.-44C>A rs764967073
NM_002700.3(POU4F3):c.-79C>A rs563020230
NM_002700.3(POU4F3):c.130_136del (p.Asn44fs)
NM_002700.3(POU4F3):c.184del (p.Ala62fs) rs1760419273
NM_002700.3(POU4F3):c.296_297dup (p.Pro100fs)
NM_002700.3(POU4F3):c.325C>T (p.His109Tyr) rs754773365
NM_002700.3(POU4F3):c.337C>T (p.Gln113Ter)
NM_002700.3(POU4F3):c.371C>A (p.Ser124Ter)
NM_002700.3(POU4F3):c.37del (p.His13fs) rs2479690433
NM_002700.3(POU4F3):c.413C>A (p.Ser138Ter)
NM_002700.3(POU4F3):c.479del (p.Gly160fs) rs2479692745
NM_002700.3(POU4F3):c.488del (p.His163fs)
NM_002700.3(POU4F3):c.494_497del (p.His165fs) rs2479692800
NM_002700.3(POU4F3):c.502del (p.Ala168fs) rs766631025
NM_002700.3(POU4F3):c.508C>T (p.His170Tyr) rs1190889679
NM_002700.3(POU4F3):c.54del (p.Glu18fs) rs2126960889
NM_002700.3(POU4F3):c.564dup (p.Ala189fs) rs2479693124
NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys) rs886060063
NM_002700.3(POU4F3):c.592C>A (p.Arg198Ser)
NM_002700.3(POU4F3):c.592C>G (p.Arg198Gly)
NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro) rs1760429451
NM_002700.3(POU4F3):c.602del (p.Leu201fs)
NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg) rs1760429516
NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala) rs1020008447
NM_002700.3(POU4F3):c.608_610dup (p.Val203_Thr204insMet)
NM_002700.3(POU4F3):c.631G>C (p.Ala211Pro)
NM_002700.3(POU4F3):c.635T>C (p.Leu212Pro) rs1760430376
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.66del (p.Ser23fs) rs2126960899
NM_002700.3(POU4F3):c.671G>A (p.Ser224Asn)
NM_002700.3(POU4F3):c.675A>T (p.Gln225His) rs2479693506
NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter) rs2126961780
NM_002700.3(POU4F3):c.696G>C (p.Glu232Asp)
NM_002700.3(POU4F3):c.696G>T (p.Glu232Asp) rs1760431636
NM_002700.3(POU4F3):c.743T>C (p.Leu248Pro) rs2479693752
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys) rs1465371108
NM_002700.3(POU4F3):c.770C>T (p.Ala257Val) rs765036368
NM_002700.3(POU4F3):c.823_842del (p.Lys275fs) rs2479693967
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe) rs121909056
NM_002700.3(POU4F3):c.879C>A (p.Phe293Leu)
NM_002700.3(POU4F3):c.879C>G (p.Phe293Leu) rs758938669
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs) rs398124631
NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter) rs2126961983
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) rs149303333
NM_002700.3(POU4F3):c.952G>A (p.Val318Met) rs2126962041
NM_002700.3(POU4F3):c.960del (p.Trp321fs) rs2479694322
NM_002700.3(POU4F3):c.976A>G (p.Arg326Gly)
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) rs398123070
NM_002700.3(POU4F3):c.97C>T (p.Arg33Ter)

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