ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" 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: 19
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HGVS dbSNP
NM_000036.2(AMPD1):c.1373G>A (p.Arg458His) rs121912682
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000311.5(PRNP):c.538G>A (p.Val180Ile) rs74315408
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002282.3(KRT83):c.1219G>A (p.Glu407Lys) rs57802288
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) rs201835496
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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