ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Istanbul Faculty of Medicine, Istanbul University and "likely pathogenic" from any submitter

Minimum review status of the submission from Istanbul Faculty of Medicine, Istanbul University: Collection method of the submission from Istanbul Faculty of Medicine, Istanbul 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_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_004425.4(ECM1):c.806G>A (p.Cys269Tyr) rs756977475
NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)

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