List of variants reported as benign for Familial hypercholesterolemia

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

Total variants: 141

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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_015627.3(LDLRAP1):c.654A>G (p.Thr218=)	rs28969504	0.62316
NM_174936.4(PCSK9):c.799+3A>G	rs2495477	0.49156
NM_015627.3(LDLRAP1):c.604T>C (p.Ser202Pro)	rs6687605	0.47789
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.67+2015G>T	rs6511720	0.11675
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_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_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp)	rs41291058	0.03285
NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	rs12713554	0.02896
NM_000384.3(APOB):c.4365C>T (p.Phe1455=)	rs12720847	0.01812
NM_174936.4(PCSK9):c.1504-16C>T	rs28362269	0.01510
NM_000527.5(LDLR):c.90C>T (p.Asn30=)	rs72658855	0.00965
NM_000527.5(LDLR):c.1187-25C>T	rs72658862	0.00812
NM_000384.3(APOB):c.*11G>T	rs72654428	0.00753
NM_000527.4(LDLR):c.-268G>T	rs17249134	0.00679
NM_000384.3(APOB):c.129G>C (p.Ala43=)	rs12720850	0.00580
NM_174936.4(PCSK9):c.1863+11C>G	rs72646526	0.00543
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)	rs28362285	0.00518
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.606A>T (p.Glu202Asp)	rs61746672	0.00387
NM_000527.4(LDLR):c.-217C>T	rs17249141	0.00338
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_174936.4(PCSK9):c.2037C>A (p.Cys679Ter)	rs28362286	0.00262
NM_000527.5(LDLR):c.1060+40G>A	rs192390193	0.00260
NM_000384.3(APOB):c.4825T>C (p.Leu1609=)	rs72653083	0.00242
NM_174936.4(PCSK9):c.1681+17G>A	rs200529774	0.00238
NM_000527.5(LDLR):c.2390-16G>A	rs183496025	0.00221
NM_174936.4(PCSK9):c.225T>C (p.Pro75=)	rs146563151	0.00191
NM_000527.5(LDLR):c.1545C>T (p.Asn515=)	rs147896205	0.00183
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.498C>T (p.Ala166=)	rs10417394	0.00153
NM_000527.5(LDLR):c.1194C>T (p.Ile398=)	rs13306498	0.00138
NM_000527.5(LDLR):c.1323C>T (p.Ile441=)	rs5933	0.00134
NM_174936.4(PCSK9):c.525C>T (p.Asp175=)	rs148612296	0.00117
NM_000527.5(LDLR):c.858C>T (p.Ser286=)	rs140241383	0.00116
NM_000384.3(APOB):c.2068-4T>A	rs41291161	0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)	rs72653093	0.00108
NM_000527.5(LDLR):c.1705+20G>A	rs374417615	0.00107
NM_000527.5(LDLR):c.828C>T (p.Cys276=)	rs146651743	0.00096
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn)	rs146471967	0.00086
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=)	rs140364657	0.00076
NM_000527.5(LDLR):c.1167G>A (p.Thr389=)	rs139066906	0.00052
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=)	rs147599496	0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)	rs67608943	0.00048
NM_000527.5(LDLR):c.694+9G>A	rs34093283	0.00040
NM_174936.4(PCSK9):c.1864-13C>T	rs147470944	0.00033
NM_000527.5(LDLR):c.1977C>A (p.Thr659=)	rs72658866	0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=)	rs146354103	0.00029
NM_000527.5(LDLR):c.1056C>T (p.Cys352=)	rs13306515	0.00026
NM_000527.5(LDLR):c.1705+18C>A	rs186896947	0.00022
NM_000527.5(LDLR):c.345C>G (p.Arg115=)	rs150144164	0.00018
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)	rs555292896	0.00013
NM_000527.5(LDLR):c.2389+8C>T	rs747170426	0.00011
NM_000527.5(LDLR):c.1764C>T (p.Ile588=)	rs778595540	0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)	rs183255090	0.00008
NM_000527.5(LDLR):c.1887C>T (p.Phe629=)	rs751234870	0.00006
NM_000527.5(LDLR):c.1988-5C>G	rs375877599	0.00006
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp)	rs756864388	0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)	rs13306505	0.00005
NM_000527.5(LDLR):c.817+14A>G	rs201875602	0.00004
NM_000527.5(LDLR):c.1002C>T (p.Ile334=)	rs762853526	0.00003
NM_000527.5(LDLR):c.993C>T (p.Asp331=)	rs147905921	0.00002
NM_000527.5(LDLR):c.1302G>A (p.Thr434=)	rs534782075	0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=)	rs373570349	0.00001
NM_000527.5(LDLR):c.818-15C>G	rs79433354	0.00001
NM_174936.4(PCSK9):c.341T>C (p.Val114Ala)	rs775988212	0.00001
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
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.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.238-6T>C	rs200048290
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	rs541497967
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000527.4(LDLR):c.-88G>A
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-143C>T
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1187-3dup
NM_000527.5(LDLR):c.1358+32C>T
NM_000527.5(LDLR):c.1359-30C>T
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1987+19C>T
NM_000527.5(LDLR):c.1988-3dup
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)	rs774698247
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.67+833T>C	rs57217136
NM_000527.5(LDLR):c.694+24dup
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.1420_1422delinsATT (p.Val474Ile)	rs1644734137
NM_174936.4(PCSK9):c.1503+20GT[17]	rs35115360
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	rs35574083

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