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: 14
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HGVS dbSNP gnomAD frequency
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767 0.00101
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) rs2234036 0.00076
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) rs144938364 0.00056
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg) rs121909124 0.00004
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465

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