ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Medical Genetics Ghent, University of Ghent and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Medical Genetics Ghent, University of Ghent: Collection method of the submission from Center for Medical Genetics Ghent, University of Ghent:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg) rs1555400288
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4943-1G>A rs1555396863
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe) rs794728237
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035

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