ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center and "pathogenic" from Illumina Laboratory Services, Illumina

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 gnomAD frequency
NM_001363711.2(DUOX2):c.1462G>A (p.Gly488Arg) rs191759494 0.00024
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800

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