ClinVar Miner

Variants with conflicting interpretations "benign" from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire and "likely benign" from any submitter

Minimum review status of the submission from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire: Collection method of the submission from Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire:
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Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_080701.4(TREX2):c.259C>T (p.Arg87Ter) rs141078733 0.00448
NM_016024.4(RBMX2):c.860G>A (p.Arg287His) rs5977266 0.00293
NM_015687.5(FILIP1):c.1483A>G (p.Lys495Glu) rs35464830 0.00257
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_004006.3(DMD):c.8308G>A (p.Asp2770Asn) rs138399787 0.00063
NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala) rs201561286 0.00030
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001401501.2(MUC16):c.7075A>G (p.Ile2359Val) rs200019597 0.00019
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_001401501.2(MUC16):c.7099del (p.Ser2367fs) rs759867982

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