ClinVar Miner

List of variants in gene F11 reported by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.485+122T>A rs1593 0.87765
NM_000128.4(F11):c.*479A>T rs1062547 0.40400
NM_000128.4(F11):c.*296G>C rs4253430 0.39509
NM_000128.4(F11):c.1481-188C>T rs2289252 0.35266
NM_000128.3(F11):c.-316C>G rs3733403 0.18149
NM_000128.4(F11):c.*265A>G rs4253429 0.16938
NM_000128.4(F11):c.1191T>C (p.Gly397=) rs5970 0.16228
NM_000128.4(F11):c.*852G>A rs4253431 0.16213
NM_000128.4(F11):c.801A>G (p.Thr267=) rs5974 0.16101
NM_000128.4(F11):c.1577-148A>T rs138207591 0.15073
NM_000128.4(F11):c.*322G>A rs4253865 0.07291
NM_000128.4(F11):c.1481-215C>T rs2289251 0.06962
NM_000128.4(F11):c.1717-48A>G rs5966 0.06932
NM_000128.4(F11):c.1812G>T (p.Arg604=) rs5971 0.06917
NM_000128.4(F11):c.429C>T (p.Asp143=) rs5973 0.06445
NM_000128.4(F11):c.485+181T>C rs4253410 0.06201
NM_000128.4(F11):c.1839G>A (p.Glu613=) rs5976 0.04596
NM_000128.4(F11):c.326-120C>T rs4253837 0.03246
NM_000128.4(F11):c.1707C>T (p.Asp569=) rs5975 0.02893
NM_000128.4(F11):c.56-85T>C rs4253833 0.02454
NM_000128.4(F11):c.486-181C>T rs4253840 0.02051
NM_000128.4(F11):c.*551A>T rs186377697 0.00654
NM_000128.4(F11):c.1016G>T (p.Cys339Phe) rs5967 0.00559
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019 0.00248
NM_000128.4(F11):c.1525G>A (p.Val509Ile) rs72710601 0.00009
NM_000128.4(F11):c.486-10T>A rs370991682 0.00009
NM_000128.4(F11):c.1083C>T (p.His361=) rs747150471 0.00007
NM_000128.4(F11):c.325+5G>T rs372102736 0.00001
NM_000128.4(F11):c.1481-34G>T rs2289253
NM_000128.4(F11):c.1576+51C>A rs2289254
NM_000128.4(F11):c.595+7A>G rs2126738493

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.