ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Human Genetics, Cologne University and "uncertain significance" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Cologne University: Collection method of the submission from Institute of Human Genetics, Cologne University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682

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