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: 12
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
Single allele

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