ClinVar Miner

List of variants in gene SCARB2 reported by Eurofins NTD LLC (GA)

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Total variants: 16
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HGVS dbSNP gnomAD frequency
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.424-4G>A rs368869126 0.00060
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00054
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786 0.00019
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135 0.00016
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.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu) rs117157204 0.00009
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409 0.00006
NM_005506.4(SCARB2):c.509C>A (p.Thr170Asn) rs1553948397
NM_005506.4(SCARB2):c.512A>C (p.His171Pro) rs1553948396
NM_005506.4(SCARB2):c.928G>A (p.Gly310Ser) rs1004780277
NM_005506.4(SCARB2):c.982A>G (p.Ile328Val) rs1560707775

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