ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn: Collection method of the submission from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770

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