ClinVar Miner

Variants in gene NOTCH2 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
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter) rs312262801

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