ClinVar Miner

List of variants in gene APOB reported as pathogenic for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1

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Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000384.3(APOB):c.6034C>T (p.Arg2012Ter) rs147863759 0.00002
NM_000384.3(APOB):c.9176G>A (p.Arg3059His) rs781645624 0.00002
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852 0.00001
NM_000384.3(APOB):c.1315C>T (p.Arg439Ter) rs142066904 0.00001
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter) rs878853970 0.00001
NM_000384.3(APOB):c.409G>T (p.Glu137Ter) rs766243954 0.00001
NM_000384.3(APOB):c.4503T>G (p.Tyr1501Ter) rs368825685 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000384.3(APOB):c.7489C>T (p.Gln2497Ter) rs1188654362 0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390 0.00001
NM_000384.3(APOB):c.10171del (p.Arg3391fs) rs1663151257
NM_000384.3(APOB):c.10182G>C (p.Lys3394Asn)
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.10230_10234del (p.His3410fs)
NM_000384.3(APOB):c.10327G>T (p.Glu3443Ter) rs2103351967
NM_000384.3(APOB):c.10577del (p.Thr3526fs)
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10734dup (p.Thr3579fs)
NM_000384.3(APOB):c.10781G>A (p.Trp3594Ter)
NM_000384.3(APOB):c.10848del (p.Gly3617fs) rs982371659
NM_000384.3(APOB):c.10852del (p.Gln3618fs)
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter) rs1663118269
NM_000384.3(APOB):c.11060_11061delinsAA (p.Phe3687Ter) rs1663117641
NM_000384.3(APOB):c.11060del (p.Phe3687fs)
NM_000384.3(APOB):c.11124del (p.Phe3708fs) rs1282116285
NM_000384.3(APOB):c.11269C>T (p.Gln3757Ter)
NM_000384.3(APOB):c.11400T>G (p.Tyr3800Ter)
NM_000384.3(APOB):c.11465del (p.Val3822fs) rs2103350639
NM_000384.3(APOB):c.11532del (p.Asn3845fs) rs2103350572
NM_000384.3(APOB):c.11764C>T (p.Gln3922Ter) rs778476070
NM_000384.3(APOB):c.1243del (p.Val415fs)
NM_000384.3(APOB):c.1258G>T (p.Glu420Ter) rs192004342
NM_000384.3(APOB):c.1471-1G>A
NM_000384.3(APOB):c.1830-1G>A rs1399892057
NM_000384.3(APOB):c.1998C>A (p.Tyr666Ter) rs1572795820
NM_000384.3(APOB):c.2060del (p.Leu687fs) rs1663772190
NM_000384.3(APOB):c.2067+1G>T
NM_000384.3(APOB):c.2115del (p.Phe705fs)
NM_000384.3(APOB):c.2341G>T (p.Gly781Ter)
NM_000384.3(APOB):c.2841_2842insCT (p.Thr948fs)
NM_000384.3(APOB):c.2960_2961del (p.Thr987fs)
NM_000384.3(APOB):c.2979T>A (p.Tyr993Ter) rs776671066
NM_000384.3(APOB):c.331_332del (p.Ala111fs) rs2103387447
NM_000384.3(APOB):c.3342_3345del (p.Glu1116fs)
NM_000384.3(APOB):c.3511G>T (p.Glu1171Ter) rs2103362763
NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter) rs121918391
NM_000384.3(APOB):c.3778G>T (p.Glu1260Ter) rs144892654
NM_000384.3(APOB):c.3896del (p.Pro1299fs)
NM_000384.3(APOB):c.3979G>T (p.Gly1327Ter)
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4006C>T (p.Gln1336Ter) rs1663384393
NM_000384.3(APOB):c.4089C>A (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4304del (p.Ile1435fs) rs1663355633
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)
NM_000384.3(APOB):c.5116dup (p.Thr1706fs) rs1553383931
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5316del (p.Asn1772fs) rs1663321162
NM_000384.3(APOB):c.5545del (p.Ala1849fs)
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.5582del (p.Gly1861fs)
NM_000384.3(APOB):c.5838C>A (p.Tyr1946Ter)
NM_000384.3(APOB):c.5976C>A (p.Tyr1992Ter)
NM_000384.3(APOB):c.6330del (p.Lys2110fs)
NM_000384.3(APOB):c.6403del (p.Val2135fs) rs2103357111
NM_000384.3(APOB):c.6540del (p.Gln2180fs)
NM_000384.3(APOB):c.6543del (p.Phe2181fs) rs1558564161
NM_000384.3(APOB):c.6567T>A (p.Tyr2189Ter)
NM_000384.3(APOB):c.6630_6631del (p.Ser2211_Leu2212insTer) rs1186975248
NM_000384.3(APOB):c.6673dup (p.Thr2225fs)
NM_000384.3(APOB):c.6679del (p.His2227fs) rs2103356720
NM_000384.3(APOB):c.671del (p.Pro224fs) rs1572801523
NM_000384.3(APOB):c.6799C>T (p.Gln2267Ter)
NM_000384.3(APOB):c.7116_7135del (p.Thr2373fs)
NM_000384.3(APOB):c.7144C>T (p.Gln2382Ter)
NM_000384.3(APOB):c.7151_7155del (p.Val2384fs) rs1441446862
NM_000384.3(APOB):c.7363C>T (p.Gln2455Ter)
NM_000384.3(APOB):c.7403del (p.Leu2468fs) rs1663245097
NM_000384.3(APOB):c.741_745del (p.Thr248fs) rs1663984693
NM_000384.3(APOB):c.7425del (p.Thr2476fs)
NM_000384.3(APOB):c.7537C>T (p.Arg2513Ter) rs146538280
NM_000384.3(APOB):c.7558C>T (p.Arg2520Ter)
NM_000384.3(APOB):c.7605C>A (p.Tyr2535Ter) rs1553383473
NM_000384.3(APOB):c.7699C>T (p.Gln2567Ter) rs2103355244
NM_000384.3(APOB):c.7704T>G (p.Tyr2568Ter) rs2103355239
NM_000384.3(APOB):c.7851del (p.Phe2617fs) rs1220363895
NM_000384.3(APOB):c.7861del (p.Pro2620_Leu2621insTer)
NM_000384.3(APOB):c.7957del (p.Asn2654fs)
NM_000384.3(APOB):c.7966_7969del (p.Phe2656fs) rs2103354942
NM_000384.3(APOB):c.8075_8076dup (p.Leu2693fs) rs2103354801
NM_000384.3(APOB):c.8392G>T (p.Glu2798Ter) rs923192918
NM_000384.3(APOB):c.8528_8531dup (p.Phe2845fs) rs2103354225
NM_000384.3(APOB):c.8594del (p.Asn2865fs)
NM_000384.3(APOB):c.8594dup (p.Asn2865fs) rs1271191797
NM_000384.3(APOB):c.8739_8740del (p.Leu2914fs)
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs) rs1215189537
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000384.3(APOB):c.9180dup (p.Pro3061fs) rs1663184094
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000384.3(APOB):c.9291del (p.Lys3097fs)
NM_000384.3(APOB):c.9497del (p.Lys3166fs)
NM_000384.3(APOB):c.9523del (p.Ala3175fs) rs878853973
NM_000384.3(APOB):c.9606dup (p.Ser3203fs)
NM_000384.3(APOB):c.9615del (p.Asp3205fs) rs2103352794
NM_000384.3(APOB):c.9632dup (p.Asn3211fs) rs2103352780
NM_000384.3(APOB):c.9960del (p.Phe3320fs) rs2103352410

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