ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Human Genomics Unit, Institute for molecular medicine Finland (FIMM) and "uncertain significance" from any submitter

Minimum review status of the submission from Human Genomics Unit, Institute for molecular medicine Finland (FIMM): Collection method of the submission from Human Genomics Unit, Institute for molecular medicine Finland (FIMM):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112

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