ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine and "pathogenic" from any submitter

Minimum review status of the submission from Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine: Collection method of the submission from Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) rs1555188155
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) rs587783689
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) rs886043506
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401

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