ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and "pathogenic" from OMIM

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: 16
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HGVS dbSNP
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_173170.1(IL36RN):c.28C>T (p.Arg10Ter) rs397514630

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