ClinVar Miner

List of variants reported as likely pathogenic by Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) rs370729240 0.00003
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter) rs758368974 0.00001
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) rs1882493359
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) rs1885297366
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val) rs868354311

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