ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Paris Brain Institute, Inserm - ICM and "likely pathogenic" from SIB Swiss Institute of Bioinformatics

Minimum review status of the submission from Paris Brain Institute, Inserm - ICM: Collection method of the submission from Paris Brain Institute, Inserm - ICM:
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_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914

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