ClinVar Miner

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

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: 17
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HGVS dbSNP
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_001077197.1(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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