ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine and "likely 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: 11
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HGVS dbSNP gnomAD frequency
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_002296.4(LBR):c.1640A>G (p.Asn547Ser) rs374343844 0.00004
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs) rs587777193
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403

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