ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
Download table as spreadsheet
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
NC_000019.10:g.11089332C>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

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.