ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute for Human Genetics, University Medical Center Freiburg and "uncertain significance" from any submitter

Minimum review status of the submission from Institute for Human Genetics, University Medical Center Freiburg: Collection method of the submission from Institute for Human Genetics, University Medical Center Freiburg:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192 0.00006
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576 0.00001
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) rs767352854 0.00001
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) rs1977158385
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153

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