ClinVar Miner

List of variants reported as benign by Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_174936.4(PCSK9):c.1355-56C>T rs585131 0.82748
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_174936.4(PCSK9):c.1681+64G>A rs483462 0.62233
NM_174936.4(PCSK9):c.799+64C>A rs494198 0.60378
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000527.5(LDLR):c.2548-42A>G rs6413504 0.39303
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.2548-80G>A rs2116897 0.22593
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_174936.4(PCSK9):c.657+114C>A rs7552350 0.16742
NM_174936.4(PCSK9):c.657+76C>A rs11806638 0.13140
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_174936.4(PCSK9):c.-64C>T rs45448095 0.09487
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_000527.5(LDLR):c.314-50T>C rs10423288 0.06015
NM_174936.4(PCSK9):c.1681+63C>T rs45439391 0.05146
NM_174936.4(PCSK9):c.-287G>A rs72658888 0.00941
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164 0.00071
NM_000527.5(LDLR):c.-13A>G rs376011618 0.00002
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1359-30C>T
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.5(LDLR):c.1706-69G>T rs7259278
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2389+46C>T
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.657+82G>A rs625619

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