ClinVar Miner

Variants with conflicting interpretations "benign" from The ITHANET community portal, The Cyprus Institute of Neurology and Genetics and "likely benign" from any submitter

Minimum review status of the submission from The ITHANET community portal, The Cyprus Institute of Neurology and Genetics: Collection method of the submission from The ITHANET community portal, The Cyprus Institute of Neurology and Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_000518.5(HBB):c.315+16G>C rs10768683 0.82893
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001

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