ClinVar Miner

Variants with conflicting interpretations "benign" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "likely benign" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 8
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HGVS dbSNP gnomAD frequency
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_001267550.2(TTN):c.30512-19dup rs397517532

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