ClinVar Miner

Variants with conflicting interpretations "benign" from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard and "pathogenic" from any submitter

Minimum review status of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard: Collection method of the submission from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard:
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_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401 0.01606
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003

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