ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Medical Genomics Laboratory, Department of Genetics UAB and "uncertain significance" from any submitter

Minimum review status of the submission from Medical Genomics Laboratory, Department of Genetics UAB: Collection method of the submission from Medical Genomics Laboratory, Department of Genetics UAB:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met) rs199474781
NM_001042492.3(NF1):c.4578-3del rs1597748663
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6705-5T>G rs1597844956
NM_001042492.3(NF1):c.6820-10T>G rs1597845883
NM_001042492.3(NF1):c.7063-3T>G rs1241158120

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