List of variants reported as pathogenic for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

Download table as spreadsheet

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.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
NC_000002.11:g.(?_21224602)_(21266817_?)del
NC_000002.12:g.(?_21001710)_(21035728_?)del
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.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.133C>T (p.Arg45Ter)
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.