ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Hereditary Research Laboratory, Bethlehem University and "likely pathogenic" from Counsyl

Minimum review status of the submission from Hereditary Research Laboratory, Bethlehem University: Collection method of the submission from Hereditary Research Laboratory, Bethlehem University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256

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