ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "uncertain significance" from any submitter

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
Single allele

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