ClinVar Miner

Variants with conflicting interpretations "benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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
NC_012920.1:m.15470T>C rs527236187
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791

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