ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and "pathogenic" from Fulgent Genetics,Fulgent Genetics

Minimum review status of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center:
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
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961

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