ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from National Institute on Deafness and Communication Disorders, National Institutes of Health and "likely benign" from any submitter

Minimum review status of the submission from National Institute on Deafness and Communication Disorders, National Institutes of Health: Collection method of the submission from National Institute on Deafness and Communication Disorders, National Institutes of Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr) rs62641623 0.00103
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) rs199537186 0.00073
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys) rs145710079 0.00002

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