ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Statistical Genetics, Columbia University and "uncertain significance" from any submitter

Minimum review status of the submission from Center for Statistical Genetics, Columbia University: Collection method of the submission from Center for Statistical Genetics, Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
Single allele

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