ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Genetics, Erasmus University Medical Center and "benign" from any submitter

Minimum review status of the submission from Clinical Genetics, Erasmus University Medical Center: Collection method of the submission from Clinical Genetics, Erasmus University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_002615.7(SERPINF1):c.643+8C>T rs149399910

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