ClinVar Miner

List of variants studied for Hepatic veno-occlusive disease-immunodeficiency syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.895G>A (p.Gly299Arg) rs1365776 0.71538
NM_080424.4(SP110):c.1568T>C (p.Met523Thr) rs1135791 0.39929
NM_080424.4(SP110):c.584-9C>T rs41309096 0.27398
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_080424.4(SP110):c.1815+14A>G rs34034766 0.11238
NM_080424.4(SP110):c.1731C>T (p.Cys577=) rs13018234 0.10366
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) rs9061 0.08779
NM_080424.4(SP110):c.1038G>C (p.Ser346=) rs7606916 0.07450
NM_080424.4(SP110):c.383C>T (p.Ala128Val) rs11556887 0.07082
NM_080424.4(SP110):c.1737G>A (p.Met579Ile) rs3948463 0.05302
NM_080424.4(SP110):c.1650T>C (p.Gly550=) rs35495464 0.05293
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
NM_080424.4(SP110):c.376G>A (p.Gly126Ser) rs41309088 0.01459
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg) rs149485401 0.00856
NM_080424.4(SP110):c.1130-11A>G rs41547617 0.00503
NM_080424.4(SP110):c.1647C>T (p.Cys549=) rs116626378 0.00462
NM_080424.4(SP110):c.1464C>T (p.Cys488=) rs147355697 0.00399
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_080424.4(SP110):c.522C>T (p.Pro174=) rs144428054 0.00137
NM_080424.4(SP110):c.1706+4A>T rs201034113 0.00073
NM_080424.4(SP110):c.1591-9C>T rs202101309 0.00058
NM_080424.4(SP110):c.542T>G (p.Leu181Arg) rs77642505 0.00058
NM_080424.4(SP110):c.1200C>T (p.Asp400=) rs115361843 0.00047
NM_080424.4(SP110):c.2006G>A (p.Arg669His) rs115347862 0.00044
NM_080424.4(SP110):c.745A>G (p.Met249Val) rs3769838 0.00036
NM_080424.4(SP110):c.1612G>A (p.Glu538Lys) rs149682257 0.00031
NM_080424.4(SP110):c.2122G>C (p.Gly708Arg) rs181058279 0.00029
NM_080424.4(SP110):c.459G>A (p.Ala153=) rs201957445 0.00029
NM_080424.4(SP110):c.2120G>A (p.Gly707Asp) rs115052010 0.00027
NM_080424.4(SP110):c.-85T>C rs199943005 0.00023
NM_080424.4(SP110):c.1324T>C (p.Phe442Leu) rs115380913 0.00020
NM_080424.4(SP110):c.898+14A>G rs200753717 0.00011
NM_080424.4(SP110):c.237T>G (p.Ser79=) rs202135641 0.00007
NM_080424.4(SP110):c.842A>G (p.Lys281Arg) rs187168146 0.00007
NM_080424.4(SP110):c.1985G>A (p.Arg662Gln) rs200397055 0.00006
NM_080424.4(SP110):c.2054T>C (p.Leu685Pro) rs114501363 0.00004
NM_080424.4(SP110):c.2138C>G (p.Pro713Arg) rs200225863 0.00004
NM_080424.4(SP110):c.*204A>T rs76598053 0.00003
NM_080424.4(SP110):c.1939A>G (p.Lys647Glu) rs752004065 0.00002
NM_080424.4(SP110):c.1988A>C (p.Asp663Ala) rs780195098 0.00002
NM_080424.4(SP110):c.386A>G (p.Glu129Gly) rs140974206 0.00002
NM_080424.4(SP110):c.989C>T (p.Thr330Met) rs141019373 0.00002
NM_080424.4(SP110):c.*203A>T rs79681285 0.00001
NM_080424.4(SP110):c.1286A>G (p.Lys429Arg) rs751347896 0.00001
NM_080424.4(SP110):c.1591-6T>G rs200317062 0.00001
NM_080424.4(SP110):c.1905G>C (p.Glu635Asp) rs199635684 0.00001
NM_080424.4(SP110):c.1928T>G (p.Leu643Trp) rs199752332 0.00001
NM_080424.4(SP110):c.550C>T (p.Pro184Ser) rs750052870 0.00001
NM_080424.4(SP110):c.711C>T (p.Asp237=) rs1167489264 0.00001
NM_080424.4(SP110):c.829+10G>A rs759280256 0.00001
NM_080424.4(SP110):c.900G>A (p.Gly300=) rs886055765 0.00001
NM_080424.4(SP110):c.*158C>A rs2078358694
NM_080424.4(SP110):c.*205_*206A[4]TTAA[1] rs5839361
NM_080424.4(SP110):c.*206del rs1553839905
NM_080424.4(SP110):c.*82G>A rs371157716
NM_080424.4(SP110):c.1173G>A (p.Val391=) rs886055764
NM_080424.4(SP110):c.127A>G (p.Ile43Val) rs886055766
NM_080424.4(SP110):c.2005C>T (p.Arg669Cys) rs200893271
NM_080424.4(SP110):c.2029-7_2029-6del rs773164340
NM_080424.4(SP110):c.2122G>A (p.Gly708Ser) rs181058279
NM_080424.4(SP110):c.340A>G (p.Ser114Gly) rs2044663300
NM_080424.4(SP110):c.342_346del (p.Ser114fs) rs1559178521
NM_080424.4(SP110):c.829+15T>C rs372230531
NM_080424.4(SP110):c.848G>C (p.Cys283Ser) rs754775004

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.