ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Human Genetics, Inc, Center for Human Genetics, Inc and "uncertain significance" from any submitter

Minimum review status of the submission from Center for Human Genetics, Inc, Center for Human Genetics, Inc: Collection method of the submission from Center for Human Genetics, Inc, Center for Human Genetics, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp) rs1555533550
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met) rs1422333640
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp) rs786202133
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244

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