ClinVar Miner

List of variants reported as likely pathogenic by Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille

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Total variants: 20
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HGVS dbSNP
NM_000192.3(TBX5):c.148-2A>G rs1565942511
NM_000192.3(TBX5):c.242+5G>A rs1555226575
NM_000192.3(TBX5):c.253C>T (p.Pro85Ser) rs1565941579
NM_000192.3(TBX5):c.510+1G>T rs1565940841
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.510+5G>C rs1555226301
NM_000192.3(TBX5):c.664-2A>G rs1565935458
NM_000192.3(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_000192.3(TBX5):c.677A>G (p.Lys226Arg) rs1565935426
NM_000192.3(TBX5):c.755+2T>C rs1565935314
NM_000192.3(TBX5):c.755G>C (p.Ser252Thr) rs863223776
NM_001197104.1(KMT2A):c.6080G>A (p.Gly2027Glu) rs1057519403
NM_003394.4(WNT10B):c.746G>T (p.Cys249Phe) rs1565715468
NM_003394.4(WNT10B):c.949T>A (p.Phe317Ile) rs1231016571
NM_003482.3(KMT2D):c.16019G>A (p.Arg5340Gln) rs1565756106
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp) rs1555521799
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro) rs1057519392
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe) rs1325190118
NM_033517.1(SHANK3):c.1030G>T (p.Val344Leu) rs1057519406
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp) rs1392647178

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