ClinVar Miner

List of variants reported as benign for Familial hypercholesterolemia by Color Diagnostics, LLC DBA Color Health

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700 0.03627
NM_000384.3(APOB):c.538-9C>T rs1800478 0.03349
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847 0.01812
NM_174936.4(PCSK9):c.1504-16C>T rs28362269 0.01510
NM_000384.3(APOB):c.*11G>T rs72654428 0.00753
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_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_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_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
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_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_174936.4(PCSK9):c.1864-13C>T rs147470944 0.00033
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
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.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.238-6T>C rs200048290
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_000527.5(LDLR):c.1061-8T>C
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.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
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.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1420_1422delinsATT (p.Val474Ile) rs1644734137
NM_174936.4(PCSK9):c.1503+20GT[17] rs35115360
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083

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