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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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
NC_000019.10:g.11089332C>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_174936.4(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_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_174936.4(PCSK9):c.321C>T (p.Tyr107=)	rs886039840	0.00001
NC_000019.10:g.11089334A>G	rs879254360
NC_000019.10:g.11089341A>T	rs879254361
NC_000019.10:g.11089407C>T	rs879254370
NC_000019.10:g.11089409C>T	rs875989887
NC_000019.10:g.11089411T>C	rs879254372
NC_000019.10:g.11089448T>C	rs747068848
NG_009060.1(LDLR):g.4976CTC[2]	rs1270618112
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_000527.5(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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