ClinVar Miner

Variants with conflicting interpretations "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: 5
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841 0.00002
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly) rs1584844048
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_022041.4(GAN):c.1502+1G>T rs1555511978

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