ClinVar Miner

Variants with conflicting interpretations "benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "likely pathogenic" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
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_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_000153.4(GALC):c.1162-4del rs11300320
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685

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