ClinVar Miner

List of variants in gene OSBPL2 reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_144498.4(OSBPL2):c.1125+15A>G rs2297592 0.44193
NM_144498.4(OSBPL2):c.1249+4C>T rs3746657 0.41122
NM_144498.4(OSBPL2):c.661C>T (p.Leu221=) rs34295100 0.01258
NM_144498.4(OSBPL2):c.216C>T (p.Ser72=) rs35907950 0.01256
NM_144498.4(OSBPL2):c.76G>A (p.Ala26Thr) rs79783838 0.01158
NM_144498.4(OSBPL2):c.792T>G (p.His264Gln) rs146042452 0.00299
NM_144498.4(OSBPL2):c.1250-3del rs781009740 0.00028
NM_144498.4(OSBPL2):c.*23C>G rs115390538
NM_144498.4(OSBPL2):c.*23C>T rs115390538

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