ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Neurogenetics Laboratory, GH Pitie Salpetriere APHP and "pathogenic" from any submitter

Minimum review status of the submission from Neurogenetics Laboratory, GH Pitie Salpetriere APHP: Collection method of the submission from Neurogenetics Laboratory, GH Pitie Salpetriere APHP:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1413+1_1413+2del rs1679558544
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs) rs1676388641

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