ClinVar Miner

Variants in gene NF2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.599+1G>A rs1555993352

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