ClinVar Miner

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

Minimum review status of the submission from Institute of Human Genetics, Heidelberg University: Collection method of the submission from Institute of Human Genetics, Heidelberg University:
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_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586

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