ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille and "uncertain significance" from any submitter

Minimum review status of the submission from Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille: Collection method of the submission from Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.4544C>T (p.Ala1515Val) rs750442854 0.00004
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311 0.00001
NM_024063.3(AFG2B):c.2087G>T (p.Cys696Phe) rs747249958 0.00001
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) rs398123613
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_006015.6(ARID1A):c.4101G>A (p.Gln1367=) rs2081109271
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly) rs2152363791
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423

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