ClinVar Miner

Variants in gene MCPH1 with conflicting interpretations "pathogenic" and "pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305

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