ClinVar Miner

List of variants in gene SCARB2 reported by Athena Diagnostics Inc

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile) rs2228380 0.02529
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258 0.00858
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064 0.00116
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223 0.00016
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val) rs1311037416 0.00002
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001

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