ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.11904-7C>T rs12720851 0.03622
NM_000384.3(APOB):c.538-9C>T rs1800478 0.03349
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
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_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_174936.4(PCSK9):c.336G>A (p.Leu112=) rs79805678 0.00033
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)

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.