List of variants reported as uncertain significance for hyperlipoproteinemia by New York Genome Center

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

Total variants: 86

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HGVS	dbSNP	gnomAD frequency
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)	rs113298164	0.00299
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)	rs28362286	0.00262
NM_000236.3(LIPC):c.89-4G>A	rs184587533	0.00184
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)	rs72653093	0.00108
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)	rs146471967	0.00086
NM_000527.5(LDLR):c.*2210T>C	rs73925118	0.00070
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)	rs148195424	0.00066
NM_000236.3(LIPC):c.738_739dup (p.Gly247fs)	rs749932377	0.00023
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)	rs142702699	0.00019
NM_000237.3(LPL):c.1325T>G (p.Val442Gly)	rs116403115	0.00016
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)	rs142756262	0.00016
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)	rs151193009	0.00014
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)	rs148502464	0.00012
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)	rs780170292	0.00011
NM_000384.3(APOB):c.400G>T (p.Ala134Ser)	rs368321279	0.00010
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr)	rs369310292	0.00007
NM_000527.5(LDLR):c.*1356C>T	rs886054173	0.00007
NM_000384.3(APOB):c.12731C>G (p.Ser4244Cys)	rs1052000878	0.00006
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)	rs200034452	0.00006
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)	rs149306841	0.00006
NM_000236.3(LIPC):c.674G>A (p.Arg225Gln)	rs575306493	0.00005
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr)	rs570782024	0.00005
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)	rs183398286	0.00005
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)	rs185224477	0.00005
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)	rs376825639	0.00004
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu)	rs201926213	0.00004
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)	rs377171241	0.00003
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)	rs776008744	0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)	rs764493597	0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)	rs551747280	0.00003
NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala)	rs138850232	0.00002
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly)	rs757383498	0.00002
NM_000384.3(APOB):c.11855G>A (p.Arg3952His)	rs886055576	0.00002
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser)	rs748256431	0.00002
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser)	rs200146448	0.00002
NM_000384.3(APOB):c.10270T>C (p.Ser3424Pro)	rs1425159052	0.00001
NM_000384.3(APOB):c.10807C>T (p.His3603Tyr)	rs750646887	0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)	rs149357946	0.00001
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn)	rs147759262	0.00001
NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)
NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)
NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)
NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)
NM_000236.3(LIPC):c.88+8C>A
NM_000237.3(LPL):c.1379C>T (p.Ala460Val)
NM_000237.3(LPL):c.1414A>C (p.Lys472Gln)
NM_000237.3(LPL):c.386A>C (p.Lys129Thr)
NM_000384.3(APOB):c.10460C>T (p.Thr3487Ile)
NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp)	rs1418775778
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)	rs150312765
NM_000384.3(APOB):c.10845C>A (p.Asp3615Glu)
NM_000384.3(APOB):c.10955A>G (p.Asn3652Ser)
NM_000384.3(APOB):c.11273T>C (p.Val3758Ala)
NM_000384.3(APOB):c.1205A>G (p.His402Arg)	rs965602697
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)	rs760832994
NM_000384.3(APOB):c.13029T>A (p.Tyr4343Ter)
NM_000384.3(APOB):c.13153C>T (p.Arg4385Cys)	rs864309556
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.3514G>A (p.Glu1172Lys)
NM_000384.3(APOB):c.3692T>C (p.Ile1231Thr)	rs1663429897
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup)	rs777844352
NM_000384.3(APOB):c.4097T>C (p.Leu1366Ser)
NM_000384.3(APOB):c.433C>G (p.Pro145Ala)
NM_000384.3(APOB):c.4822T>A (p.Ser1608Thr)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5188A>C (p.Lys1730Gln)
NM_000384.3(APOB):c.5898C>A (p.His1966Gln)
NM_000384.3(APOB):c.649C>T (p.Pro217Ser)	rs573308525
NM_000384.3(APOB):c.6752A>G (p.Asn2251Ser)
NM_000384.3(APOB):c.7118C>T (p.Thr2373Ile)	rs1417267509
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile)	rs375053331
NM_000384.3(APOB):c.8548A>G (p.Ile2850Val)
NM_000384.3(APOB):c.9947C>G (p.Ser3316Cys)
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)	rs879254851
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)	rs143872778
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964
NM_000527.5(LDLR):c.817+6C>T
NM_015627.3(LDLRAP1):c.65G>T (p.Trp22Leu)
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)	rs569379713
NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup)	rs35574083
NM_174936.4(PCSK9):c.956G>A (p.Arg319Gln)	rs1644712458

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