ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and "pathogenic" from Baylor 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: 8
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HGVS dbSNP
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273

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