List of variants reported as likely benign for Hypercholesterolemia, familial, 1 by Robarts Research Institute, Western University

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		ClinVar version:

Total variants: 84

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	rs12713554	0.02896
NM_000384.3(APOB):c.10701G>A (p.Thr3567=)	rs12713558	0.02176
NM_000384.3(APOB):c.4365C>T (p.Phe1455=)	rs12720847	0.01812
NM_000384.3(APOB):c.11808C>T (p.Ile3936=)	rs12720852	0.01624
NM_000384.3(APOB):c.3509-10G>A	rs12720770	0.01624
NM_000527.5(LDLR):c.90C>T (p.Asn30=)	rs72658855	0.00965
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)	rs1799812	0.00564
NM_000384.3(APOB):c.607A>G (p.Ile203Val)	rs72653059	0.00396
NM_000384.3(APOB):c.606A>T (p.Glu202Asp)	rs61746672	0.00387
NM_000384.3(APOB):c.6261C>A (p.Thr2087=)	rs61744855	0.00366
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	rs12713843	0.00356
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	0.00319
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)	rs1801696	0.00305
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)	rs72653095	0.00267
NM_000384.3(APOB):c.1785C>G (p.Ser595=)	rs139864087	0.00247
NM_000384.3(APOB):c.4825T>C (p.Leu1609=)	rs72653083	0.00242
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile)	rs148170480	0.00210
NM_000384.3(APOB):c.3426G>A (p.Ser1142=)	rs142448733	0.00177
NM_000384.3(APOB):c.581C>T (p.Thr194Met)	rs13306198	0.00162
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=)	rs145777339	0.00139
NM_000384.3(APOB):c.2068-4T>A	rs41291161	0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)	rs72653093	0.00108
NM_000384.3(APOB):c.9477G>A (p.Lys3159=)	rs13306196	0.00073
NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	rs72654427	0.00064
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)	rs12714097	0.00063
NM_000384.3(APOB):c.7152T>C (p.Val2384=)	rs72653090	0.00041
NM_000384.3(APOB):c.9855C>T (p.Ile3285=)	rs72654403	0.00041
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=)	rs138157751	0.00034
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)	rs137853962	0.00026
NM_174936.4(PCSK9):c.993C>T (p.Pro331=)	rs376753957	0.00022
NM_000384.3(APOB):c.13302C>T (p.Ser4434=)	rs144040999	0.00013
NM_000384.3(APOB):c.8877G>A (p.Leu2959=)	rs765899256	0.00012
NM_000384.3(APOB):c.12318A>G (p.Arg4106=)	rs375795401	0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=)	rs200623857	0.00008
NM_174936.4(PCSK9):c.609C>T (p.Thr203=)	rs200856421	0.00007
NM_000384.3(APOB):c.11934C>T (p.Ile3978=)	rs539824713	0.00006
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)	rs146924245	0.00006
NM_000384.3(APOB):c.10371C>T (p.Ser3457=)	rs139891446	0.00005
NM_000384.3(APOB):c.13452G>A (p.Thr4484=)	rs200374122	0.00005
NM_000384.3(APOB):c.2950G>A (p.Ala984Thr)	rs752149683	0.00005
NM_000384.3(APOB):c.3096C>G (p.Thr1032=)	rs757565957	0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)	rs543852919	0.00003
NM_000384.3(APOB):c.690C>A (p.Gly230=)	rs151096846	0.00002
NM_000384.3(APOB):c.8469T>C (p.Ala2823=)	rs531216195	0.00002
NM_174936.4(PCSK9):c.1671C>T (p.His557=)	rs72646521	0.00002
NM_000384.3(APOB):c.3051C>T (p.Ser1017=)	rs558838327	0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)	rs149357946	0.00001
NM_000384.3(APOB):c.5616C>T (p.Ile1872=)	rs1487486971	0.00001
NM_000527.5(LDLR):c.2088C>T (p.Cys696=)	rs112954220	0.00001
NM_000384.3(APOB):c.10740C>T (p.Asn3580=)	rs150312765
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13116A>G (p.Gln4372=)	rs755500550
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.1402A>G (p.Asn468Asp)	rs886804701
NM_000384.3(APOB):c.1493C>T (p.Thr498Ile)	rs758928147
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1734C>T (p.Val578=)	rs1553386125
NM_000384.3(APOB):c.1773C>T (p.Asn591=)	rs1553386116
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.2308G>A (p.Val770Ile)	rs1415675587
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7296C>T (p.Tyr2432=)	rs1553383536
NM_000384.3(APOB):c.900T>C (p.Gly300=)	rs549628916
NM_000384.3(APOB):c.9387T>G (p.Pro3129=)	rs769437017
NM_000384.3(APOB):c.9471C>T (p.Gly3157=)	rs746031928
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	rs137853960
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	rs137853964
NM_000527.5(LDLR):c.330C>G (p.Ser110=)	rs768109825
NM_000527.5(LDLR):c.941-4G>A
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)	rs35574083

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