ClinVar Miner

List of variants studied for hyperlipoproteinemia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097 0.00063
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu) rs200524554 0.00007
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_174936.4(PCSK9):c.1483C>T (p.Arg495Trp) rs758999339 0.00002
NM_174936.4(PCSK9):c.1510G>T (p.Gly504Trp) rs374455190 0.00002
NM_000384.3(APOB):c.11929A>C (p.Asn3977His) rs761528809 0.00001
NM_000384.3(APOB):c.3069G>T (p.Gln1023His) rs1364541592 0.00001
NM_000384.3(APOB):c.3844G>A (p.Asp1282Asn) rs781366272 0.00001
NM_000384.3(APOB):c.9794T>C (p.Ile3265Thr) rs1193351124 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly) rs730882081 0.00001
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter) rs199774121 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_174936.4(PCSK9):c.1334C>T (p.Pro445Leu) rs769060209 0.00001
GRCh37/hg19 19p13.2(chr19:11215846-11222365)x3
GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1
NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.12784_12787del (p.Lys4261_Leu4262insTer)
NM_000384.3(APOB):c.12829T>C (p.Ser4277Pro) rs1663016434
NM_000384.3(APOB):c.12910C>T (p.Gln4304Ter)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1655C>A (p.Ala552Asp) rs765746519
NM_000384.3(APOB):c.2115del (p.Phe705fs)
NM_000384.3(APOB):c.2279A>C (p.Lys760Thr) rs748468287
NM_000384.3(APOB):c.2870T>A (p.Ile957Asn) rs2103367360
NM_000384.3(APOB):c.44_52del (p.Pro15_Leu17del) rs1490902367
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.8045G>A (p.Ser2682Asn)
NM_000384.3(APOB):c.8267G>T (p.Gly2756Val) rs1663216912
NM_000384.3(APOB):c.9706G>T (p.Glu3236Ter) rs1422346794
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1005del (p.Tyr336fs)
NM_000527.5(LDLR):c.1054_1056del (p.Cys352del) rs2077364374
NM_000527.5(LDLR):c.1061-2A>G rs879254773
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1464_1465del (p.Tyr489fs)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1880C>A (p.Ala627Asp) rs875989934
NM_000527.5(LDLR):c.1904_1905del (p.Thr635fs) rs2077524382
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2056C>T (p.Gln686Ter) rs879255126
NM_000527.5(LDLR):c.2167del (p.Glu723fs) rs879255153
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.283T>A (p.Cys95Ser) rs879254456
NM_000527.5(LDLR):c.314-50_1186+50dup
NM_000527.5(LDLR):c.314-62_1186+60dup
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr)
NM_000527.5(LDLR):c.417C>A (p.Asp139Glu) rs537484504
NM_000527.5(LDLR):c.526_533dup (p.Asp178fs) rs879254562
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.557dup (p.Leu187fs) rs879254573
NM_000527.5(LDLR):c.626G>T (p.Cys209Phe)
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.666_679del (p.Cys222_Asp227delinsTer)
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) rs879254626
NM_000527.5(LDLR):c.67+1G>A
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.818-1G>A rs879254688
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_000527.5:c.(2311+1_2312-1)_(2389+1_2390-1)del
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1570G>C (p.Ala524Pro) rs746457760
NM_174936.4(PCSK9):c.658-6G>T rs745633457

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