ClinVar Miner

List of variants reported as pathogenic for hyperlipoproteinemia by OMIM

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.161223893G>A rs5082 0.67600
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502 0.00076
NM_000078.3(CETP):c.1376A>G (p.Asp459Gly) rs2303790 0.00066
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) rs118204070 0.00004
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_015627.3(LDLRAP1):c.863C>T (p.Ser288Leu) rs753151497 0.00004
NM_000078.3(CETP):c.1321+1G>A rs5742907 0.00002
NM_000237.3(LPL):c.755T>C (p.Ile252Thr) rs118204080 0.00002
NM_000237.3(LPL):c.306A>C (p.Arg102Ser) rs118204073 0.00001
NM_000237.3(LPL):c.337T>C (p.Trp113Arg) rs118204069 0.00001
NM_000237.3(LPL):c.397C>T (p.Gln133Ter) rs118204058 0.00001
NM_000237.3(LPL):c.607G>A (p.Ala203Thr) rs118204056 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) rs118204077 0.00001
NM_000237.3(LPL):c.809G>A (p.Arg270His) rs118204062 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_015627.3(LDLRAP1):c.459+2T>G rs1461905374 0.00001
FH Aarhus
FH Bologna 2
FH Cape Town 2
FH French Canadian 5
FH Leiden 2
FH London 1
FH London 2
FH Osaka 2
FH Paris 1 rs1555803632
FH Reykjavik
FH Tonami 1
FH Tsukuba 2
FH Vancouver 2
FH Vancouver 3
FH Vancouver 4
FH Vancouver 6
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
LDLR, EX17-18DEL
LPL, 1-BP DEL, CODON 172
LPL, INS
NC_000019.10:g.(11077742_11077775)_(11093595_11093630)del
NC_000019.10:g.11089411del rs387906307
NG_008855.2:g.(51625_55052)_(57638_59124)del
NM_000078.3(CETP):c.1321+2dup rs1567476573
NM_000236.3(LIPC):c.1068= (p.Phe356=)
NM_000236.3(LIPC):c.583G>A (p.Ala195Thr) rs1566946168
NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) rs118204071
NM_000237.3(LPL):c.1174C>G (p.Leu392Val) rs118204078
NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) rs118204066
NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) rs118204079
NM_000237.3(LPL):c.249+1G>A rs1563569634
NM_000237.3(LPL):c.250-1G>A rs1563572716
NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) rs118204065
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) rs118204074
NM_000237.3(LPL):c.506G>A (p.Gly169Glu) rs118204063
NM_000237.3(LPL):c.548A>G (p.Asp183Gly) rs118204064
NM_000237.3(LPL):c.596C>G (p.Ser199Cys) rs118204072
NM_000237.3(LPL):c.621C>G (p.Asp207Glu) rs118204076
NM_000237.3(LPL):c.665G>A (p.Gly222Glu) rs118204075
NM_000237.3(LPL):c.693C>G (p.Asp231Glu) rs118204067
NM_000237.3(LPL):c.742del (p.Ala248fs) rs1563575252
NM_000237.3(LPL):c.798C>G (p.Cys266Trp) rs118204082
NM_000237.3(LPL):c.811T>A (p.Ser271Thr) rs118204059
NM_000237.3(LPL):c.88+1G>C rs766134215
NM_000237.3(LPL):c.898_1019-1234dup
NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) rs118204081
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1891_2311+1062del
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+86C>G rs587776886
NM_000527.5(LDLR):c.2311+251_*813del
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter) rs121908032
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs) rs387906302
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp) rs121908037
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser) rs121908042
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.925_931del (p.Pro309fs) rs387906304
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del
NM_015627.3(LDLRAP1):c.432_433insA (p.Ala145fs) rs1557703339
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.65G>A (p.Trp22Ter) rs121908324
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.74dup (p.Gly26fs) rs1553170279
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu) rs28942112

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