ClinVar Miner

List of variants in gene SCARB2 reported as uncertain significance by GeneDx

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00114
NM_005506.4(SCARB2):c.-17C>G rs200282963 0.00053
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095 0.00041
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786 0.00019
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473 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.1210A>G (p.Met404Val) rs147142116 0.00011
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932 0.00011
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala) rs188036542 0.00010
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713 0.00009
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409 0.00006
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr) rs1064794450 0.00005
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481 0.00003
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys) rs751711805 0.00003
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910 0.00002
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr) rs1010410881 0.00001
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val) rs376806999 0.00001
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile) rs796052948 0.00001
NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu) rs1560716152 0.00001
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys) rs1018285383 0.00001
NM_005506.4(SCARB2):c.704+5G>A rs774271963 0.00001
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val) rs200332825 0.00001
NM_005506.4(SCARB2):c.920A>C (p.Asp307Ala) rs769096895 0.00001
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile) rs1732373905
NM_005506.4(SCARB2):c.390T>C (p.Ile130=)
NM_005506.4(SCARB2):c.545A>G (p.Asp182Gly) rs1195973878
NM_005506.4(SCARB2):c.880C>T (p.Arg294Trp) rs796052947
NM_005506.4(SCARB2):c.995-7A>G rs1553947630

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