ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center and "benign" from Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 6
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_000150.4(FUT6):c.945C>A (p.Tyr315Ter) rs145035679 0.00631
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_006420.3(ARFGEF2):c.625G>A (p.Glu209Lys) rs28937880 0.00079

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