ClinVar Miner

List of variants in gene BSND reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00061
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) rs146313023 0.00013
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) rs199696535 0.00005
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892 0.00004
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) rs765579274 0.00003
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.197A>G (p.Asp66Gly) rs1570272506
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) rs201387711
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) rs749600956
NM_057176.3(BSND):c.821A>C (p.Lys274Thr) rs547338387
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) rs376784896

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