ClinVar Miner

List of variants reported for Abnormal bleeding by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000552.5(VWF):c.1901C>T (p.Ala634Val) rs761282513 0.00004
NM_000130.5(F5):c.5621T>C (p.Met1874Thr) rs377129476 0.00003
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) rs748630360 0.00003
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 0.00003
NM_000934.4(SERPINF2):c.64-3C>T rs1173047022 0.00003
NM_000361.3(THBD):c.1433C>T (p.Thr478Ile) rs574192210 0.00002
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.408C>A (p.Cys136Ter) rs143648758 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000361.3(THBD):c.1357G>A (p.Gly453Arg) rs1189569754 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_001130004.2(ACTN1):c.1159C>T (p.Arg387Trp) rs1594768518 0.00001
NM_005141.5(FGB):c.1058A>G (p.Lys353Arg) rs763287118 0.00001
NM_019616.4(F7):c.523A>G (p.Lys175Glu) rs1250204261 0.00001
NM_021871.4(FGA):c.104G>A (p.Arg35His) rs121909607 0.00001
NC_000022.11:g.19721912_19724790del
NM_000088.4(COL1A1):c.1134del (p.Ala379fs) rs1598297227
NM_000212.3(ITGB3):c.2128G>A (p.Glu710Lys) rs1471737872
NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg) rs1199275720
NM_000361.3(THBD):c.1487del (p.Pro496fs) rs1600409323
NM_000361.3(THBD):c.1611C>A (p.Cys537Ter) rs1600409143
NM_000361.3(THBD):c.778C>G (p.Pro260Ala) rs1362772246
NM_000407.5(GP1BB):c.106C>T (p.Leu36Phe) rs1601248319
NM_000504.4(F10):c.748-50_865+35del rs1595098100
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000602.4(SERPINE1):c.0_-2+51del rs1584902091
NM_000934.4(SERPINF2):c.561_565del (p.Lys189fs) rs1597325785
NM_001083899.2(GP6):c.278del (p.Gly93fs) rs1321226182
NM_001098671.2(RASGRP2):c.914G>A (p.Gly305Asp) rs1592371840
NM_005141.5(FGB):c.478A>C (p.Lys160Gln) rs1578782707
NM_019616.4(F7):c.1094T>C (p.Met365Thr) rs1595080725
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_021870.3(FGG):c.331A>T (p.Lys111Ter) rs1578812509
Single allele

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.