ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "pathogenic" from Eurofins NTD LLC (GA)

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: 6
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001

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