ClinVar Miner

List of variants reported as uncertain significance for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 by New York Genome Center

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699 0.00019
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser) rs142756262 0.00016
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_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_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_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_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_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)

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