ClinVar Miner

Variants with conflicting interpretations "likely benign" from Paul Sabatier University EA-4555, Paul Sabatier University and "benign" from any submitter

Minimum review status of the submission from Paul Sabatier University EA-4555, Paul Sabatier University: Collection method of the submission from Paul Sabatier University EA-4555, Paul Sabatier University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly) rs150079294 0.00397
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021

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