ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ClinGen Hearing Loss Variant Curation Expert Panel and "pathogenic" from any submitter

Minimum review status of the submission from ClinGen Hearing Loss Variant Curation Expert Panel: Collection method of the submission from ClinGen Hearing Loss Variant Curation Expert Panel:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_194248.3(OTOF):c.2215-1G>C

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