List of variants reported as benign for Familial hypercholesterolemia by GENinCode PLC

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

Total variants: 151

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HGVS	dbSNP	gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=)	rs509504	0.98223
NM_174936.4(PCSK9):c.207+15A>G	rs2495482	0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=)	rs540796	0.82761
NM_000527.5(LDLR):c.*315G>C	rs2738464	0.80309
NM_000527.5(LDLR):c.2232A>G (p.Arg744=)	rs5927	0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=)	rs5930	0.65878
NM_000527.5(LDLR):c.*666T>C	rs1433099	0.65588
NM_174936.4(PCSK9):c.799+3A>G	rs2495477	0.49156
NM_174936.4(PCSK9):c.658-7C>T	rs2483205	0.45035
NM_000384.3(APOB):c.7545C>T (p.Thr2515=)	rs693	0.38722
NM_000384.3(APOB):c.6936C>T (p.Asp2312=)	rs1041968	0.38695
NM_000527.5(LDLR):c.1959T>C (p.Val653=)	rs5925	0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)	rs688	0.33392
NM_000527.5(LDLR):c.*504G>A	rs2738465	0.29077
NM_000527.5(LDLR):c.*773A>G	rs2738466	0.22642
NM_000527.5(LDLR):c.*52G>A	rs14158	0.22552
NM_000527.5(LDLR):c.1725C>T (p.Leu575=)	rs1799898	0.11001
NM_000527.5(LDLR):c.81C>T (p.Cys27=)	rs2228671	0.08613
NM_174936.4(PCSK9):c.524-11G>A	rs11800231	0.08151
NM_000527.5(LDLR):c.1617C>T (p.Pro539=)	rs5929	0.07003
NM_000527.5(LDLR):c.*141G>A	rs3826810	0.06460
NM_174936.4(PCSK9):c.657+9G>A	rs11800243	0.03991
NM_000384.3(APOB):c.2706C>T (p.Asn902=)	rs1801700	0.03627
NM_000384.3(APOB):c.11904-7C>T	rs12720851	0.03622
NM_000384.3(APOB):c.538-9C>T	rs1800478	0.03349
NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	rs12713554	0.02896
NM_000384.3(APOB):c.8148C>T (p.Ile2716=)	rs6413458	0.02288
NM_000384.3(APOB):c.9004C>T (p.Leu3002=)	rs12713600	0.01938
NM_000384.3(APOB):c.11808C>T (p.Ile3936=)	rs12720852	0.01624
NM_000384.3(APOB):c.3509-10G>A	rs12720770	0.01624
NM_174936.4(PCSK9):c.1504-16C>T	rs28362269	0.01510
NM_000527.5(LDLR):c.90C>T (p.Asn30=)	rs72658855	0.00965
NM_000384.3(APOB):c.2244+3G>A	rs12714189	0.00920
NM_000384.3(APOB):c.2604+15G>C	rs72653066	0.00842
NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	rs28385701	0.00815
NM_000527.5(LDLR):c.1187-25C>T	rs72658862	0.00812
NM_000384.3(APOB):c.*11G>T	rs72654428	0.00753
NC_000019.10:g.11089281G>T	rs17249134	0.00679
NM_000384.3(APOB):c.129G>C (p.Ala43=)	rs12720850	0.00580
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)	rs1799812	0.00564
NM_174936.4(PCSK9):c.1863+11C>G	rs72646526	0.00543
NM_000384.3(APOB):c.904+11C>G	rs148944625	0.00522
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)	rs28362285	0.00518
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala)	rs61743502	0.00516
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)	rs41297883	0.00500
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=)	rs28362268	0.00488
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)	rs28362261	0.00485
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
NC_000019.10:g.11089332C>T	rs17249141	0.00338
NM_174936.4(PCSK9):c.1354+9G>T	rs72646516	0.00337
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	0.00319
NM_000527.5(LDLR):c.67+18C>A	rs17242759	0.00319
NM_000384.3(APOB):c.8353A>C (p.Asn2785His)	rs2163204	0.00306
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=)	rs146960060	0.00289
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)	rs72653095	0.00267
NM_000527.5(LDLR):c.*13A>G	rs72658871	0.00255
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn)	rs183812948	0.00250
NM_000384.3(APOB):c.1785C>G (p.Ser595=)	rs139864087	0.00247
NM_000384.3(APOB):c.2295G>A (p.Leu765=)	rs72653063	0.00235
NM_000384.3(APOB):c.3150A>G (p.Thr1050=)	rs72653072	0.00231
NM_000527.5(LDLR):c.*517C>A	rs115882455	0.00227
NM_000384.3(APOB):c.12803T>C (p.Met4268Thr)	rs72654422	0.00222
NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp)	rs72653091	0.00222
NM_000527.5(LDLR):c.2390-16G>A	rs183496025	0.00221
NM_174936.4(PCSK9):c.753C>T (p.Arg251=)	rs28385710	0.00219
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)	rs61741974	0.00213
NM_000384.3(APOB):c.8889C>T (p.Ile2963=)	rs72653097	0.00213
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys)	rs61743313	0.00198
NM_000384.3(APOB):c.751G>A (p.Ala251Thr)	rs61741625	0.00190
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_000527.5(LDLR):c.1194C>T (p.Ile398=)	rs13306498	0.00138
NM_000384.3(APOB):c.11788+16C>T	rs139704306	0.00136
NM_000527.5(LDLR):c.1323C>T (p.Ile441=)	rs5933	0.00134
NM_000384.3(APOB):c.4163G>A (p.Arg1388His)	rs13306187	0.00088
NM_000384.3(APOB):c.9477G>A (p.Lys3159=)	rs13306196	0.00073
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_000384.3(APOB):c.-79T>C	rs535018963	0.00035
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=)	rs138157751	0.00034
NM_174936.4(PCSK9):c.336G>A (p.Leu112=)	rs79805678	0.00033
NM_000384.3(APOB):c.2817-19T>G	rs72653069	0.00025
NM_000384.3(APOB):c.12016G>A (p.Val4006Ile)	rs183117027	0.00019
NM_000384.3(APOB):c.2823A>G (p.Thr941=)	rs200868559	0.00008
NM_000384.3(APOB):c.6513A>G (p.Leu2171=)	rs547853968	0.00003
NM_000384.3(APOB):c.8469T>C (p.Ala2823=)	rs531216195	0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=)	rs147905921	0.00002
NM_000384.2(APOB):c.-277C>T
NM_000384.2(APOB):c.-393T>C
NM_000384.2(APOB):c.-430C>A
NM_000384.2(APOB):c.-644C>T
NM_000384.2(APOB):c.-965A>G
NM_000384.3(APOB):c.*180G>T	rs12720763
NM_000384.3(APOB):c.-115C>G	rs1800480
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.121+22C>A
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3842+23C>T
NM_000384.3(APOB):c.49CTG[5] (p.Leu22del)	rs745520533
NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup)	rs745520533
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	rs541497967
NM_000384.3(APOB):c.6765G>A (p.Lys2255=)	rs372343882
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val)	rs571626569
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.905-23C>T
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000527.5(LDLR):c.*717G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2548-23C>T
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	rs35574083

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