ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University and "uncertain significance" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University: Collection method of the submission from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg 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_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_198428.3(BBS9):c.263+4A>G rs370916293

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