ClinVar Miner

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

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Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.658-36G>A rs11800265 0.03888
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700 0.03627
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_174936.4(PCSK9):c.*75C>T rs28362287 0.02377
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000384.3(APOB):c.82+131A>G rs12720761 0.01773
NM_000384.3(APOB):c.1353-12C>T rs76202659 0.01423
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000384.3(APOB):c.1352+60C>A rs12714224 0.00793
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_000527.4(LDLR):c.-217C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_000384.3(APOB):c.905-16A>C rs12720810 0.00172
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_174936.4(PCSK9):c.996+51A>G rs45573036 0.00036
NM_174936.3(PCSK9):c.-331C>A rs778796405 0.00026
NM_174936.4(PCSK9):c.799+26C>T rs201405859 0.00025
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp) rs200583769 0.00024
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_174936.4(PCSK9):c.1181-39C>T rs372353877 0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000384.3(APOB):c.1829A>G (p.Asp610Gly) rs199646491 0.00003
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) rs531273434 0.00003
NM_000527.5(LDLR):c.1383C>T (p.Gly461=) rs764929176 0.00003
NM_174936.4(PCSK9):c.1863+6G>A rs568853401 0.00003
NM_174936.4(PCSK9):c.321C>T (p.Tyr107=) rs886039840 0.00003
NM_000384.3(APOB):c.10519C>T (p.Arg3507Trp) rs754264874 0.00002
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000384.3(APOB):c.1280G>A (p.Arg427Gln) rs755407886 0.00001
NM_000384.3(APOB):c.148C>T (p.Arg50Trp) rs749903604 0.00001
NM_000384.3(APOB):c.3425C>T (p.Ser1142Leu) rs199859104 0.00001
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_174936.4(PCSK9):c.-8T>C rs886039837 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1681+39C>T rs886039850 0.00001
NM_174936.4(PCSK9):c.1681+50T>C rs758072703 0.00001
NM_000384.3(APOB):c.-115C>G rs1800480
NM_000384.3(APOB):c.-18G>A rs886039825
NM_000384.3(APOB):c.10193C>T (p.Ala3398Val) rs1367798781
NM_000384.3(APOB):c.10602C>A (p.Gly3534=) rs886039828
NM_000384.3(APOB):c.10629C>G (p.Asn3543Lys) rs1553382944
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.12460G>A (p.Glu4154Lys) rs767587977
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.1580C>T (p.Ala527Val) rs886039827
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.538-8C>T rs886039826
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-138T>C rs879254372
NM_000527.4(LDLR):c.-140C>T rs875989887
NM_000527.4(LDLR):c.-142C>T rs879254370
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-208A>T rs879254361
NM_000527.4(LDLR):c.-215A>G rs879254360
NM_000527.5(LDLR):c.-36T>G rs879254378
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1434G>A (p.Gly478=) rs886039832
NM_000527.5(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1499T>C (p.Val500Ala) rs886039833
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1618_1620del (p.Ala540del) rs879254961
NM_000527.5(LDLR):c.1830_1839del (p.Ala612fs) rs886039834
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.5(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del) rs879255195
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg) rs750474121
NM_000527.5(LDLR):c.313+6T>C rs879254468
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_174936.4(PCSK9):c.-245G>T rs28362201
NM_174936.4(PCSK9):c.-67C>A rs886039836
NM_174936.4(PCSK9):c.-73A>G rs886039835
NM_174936.4(PCSK9):c.1180+22T>C rs886039848
NM_174936.4(PCSK9):c.1181-53T>C rs886039849
NM_174936.4(PCSK9):c.372G>A (p.Val124=) rs886039841
NM_174936.4(PCSK9):c.400-11G>A rs886039844
NM_174936.4(PCSK9):c.400-22C>A rs886039843
NM_174936.4(PCSK9):c.400-94G>A rs886039842
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.503C>A (p.Ala168Glu) rs770592607
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.654A>T (p.Arg218Ser) rs970575319
NM_174936.4(PCSK9):c.657+107C>T rs886039846
NM_174936.4(PCSK9):c.657+114del rs397735050
NM_174936.4(PCSK9):c.657+91G>C rs886039845
NM_174936.4(PCSK9):c.658-36G>C rs11800265
NM_174936.4(PCSK9):c.733G>A (p.Ala245Thr) rs1210030445
NM_174936.4(PCSK9):c.815G>A (p.Arg272Gln) rs1486032110
NM_174936.4(PCSK9):c.996+44A>G rs67578331
NM_174936.4(PCSK9):c.996+65G>C rs886039847
Single allele
c.(1186+1_1187-1)_(2140+1_2141-1)dup

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