ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Medical Genetics, University of Parma and "likely benign" from any submitter

Minimum review status of the submission from Medical Genetics, University of Parma: Collection method of the submission from Medical Genetics, University of Parma:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001042492.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=) rs1135402896

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