ClinVar Miner

List of variants reported as likely benign for Factor VII Marburg I Variant Thrombophilia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198060.4(NRAP):c.*7del rs3832698 0.35956
NM_004132.4(HABP2):c.-70T>C rs2240879 0.32584
NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) rs7080536 0.02383
NM_004132.5(HABP2):c.1177G>C (p.Glu393Gln) rs11575688 0.01117
NM_198060.4(NRAP):c.5088+182G>T rs117698899 0.00962
NM_004132.5(HABP2):c.405C>A (p.Arg135=) rs7086714 0.00873
NM_004132.5(HABP2):c.568+9C>T rs11575755 0.00801
NM_004132.5(HABP2):c.-58G>C rs151205492 0.00598
NM_004132.5(HABP2):c.830C>T (p.Ser277Leu) rs140350069 0.00573
NM_004132.5(HABP2):c.95G>T (p.Ser32Ile) rs61867369 0.00473
NM_004132.5(HABP2):c.633C>T (p.Asn211=) rs11575759 0.00468
NM_004132.5(HABP2):c.448+14G>A rs7086974 0.00412
NM_004132.4(HABP2):c.-71T>C rs11575695 0.00386
NM_004132.5(HABP2):c.268G>A (p.Val90Ile) rs11575750 0.00277
NM_198060.4(NRAP):c.*41T>C rs138944153 0.00229
NM_004132.5(HABP2):c.740+7T>A rs184372424 0.00208
NM_004132.5(HABP2):c.252C>T (p.His84=) rs11575749 0.00182
NM_004132.5(HABP2):c.-3A>G rs200192110 0.00170
NM_004132.5(HABP2):c.1095-6T>C rs200597605 0.00154
NM_004132.5(HABP2):c.497C>T (p.Ser166Phe) rs142936446 0.00114
NM_004132.5(HABP2):c.947G>A (p.Gly316Glu) rs138864377 0.00076
NM_004132.5(HABP2):c.1238-2A>G rs771393045 0.00011
NM_198060.4(NRAP):c.5089-159A>C rs3740529 0.00009
NM_004132.5(HABP2):c.46C>G (p.Leu16Val) rs567136227 0.00001
NM_198060.4(NRAP):c.*241T>C rs186172374
NM_198060.4(NRAP):c.5170AAG[2] (p.Lys1726del) rs11575787

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.