ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "likely benign" 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: 8
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HGVS dbSNP
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448

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