ClinVar Miner

List of variants reported as pathogenic for perceptual disorders by National Institute on Deafness and Communication Disorders, National Institutes of Health

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.20G>T (p.Gly7Val) rs781989117 0.00002
NM_001031679.3(MSRB3):c.391-1G>A rs751906778 0.00001
NM_001199799.2(ILDR1):c.1384C>T (p.Arg462Ter) rs775062249 0.00001
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) rs762876554 0.00001
NM_194323.3(OTOF):c.3514C>T (p.Arg1172Trp) rs530821443 0.00001
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.2339del (p.Gly780fs) rs1565402473
NM_000260.4(MYO7A):c.3728C>G (p.Pro1243Arg) rs750358148
NM_000260.4(MYO7A):c.5856+5G>C rs1386887007
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001199107.2(TBC1D24):c.965+1G>A rs1390045914
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001256317.3(TMPRSS3):c.783-1G>T rs1237955948
NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs) rs2079481708
NM_001384140.1(PCDH15):c.788C>A (p.Pro263Gln) rs1564949059
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys) rs869312750
NM_004525.3(LRP2):c.7715+3A>T rs797045684
NM_004525.3(LRP2):c.8452_8452+1del
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.6162+5G>A rs1565541888
NM_005422.4(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs) rs1057519607
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) rs779077039
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) rs1209665716
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.6178-2A>G rs878854415
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs) rs1057519604
NM_016239.4(MYO15A):c.9229+2T>C rs1057519606
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer) rs754472294
NM_138691.3(TMC1):c.1143C>G (p.Tyr381Ter) rs757327146
NM_138691.3(TMC1):c.1220dup (p.Asn407fs) rs1564555185
NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) rs1558488902
NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) rs1558464965

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