ClinVar Miner

List of variants reported as benign for Hepatic veno-occlusive disease-immunodeficiency syndrome by Invitae

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.334T>C (p.Trp112Arg) rs1129411 0.91532
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser) rs3948464 0.86768
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.1274= (p.Leu425=) rs3948464 0.13232
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.334= (p.Trp112=) rs1129411 0.08468
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.583+8A>G rs114743173 0.00224
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+20G>A rs192671550 0.00129
NM_080424.4(SP110):c.978T>G (p.Thr326=) rs145246759 0.00109
NM_080424.4(SP110):c.1413G>A (p.Ala471=) rs147519012 0.00085
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.2006G>A (p.Arg669His) rs115347862 0.00044
NM_080424.4(SP110):c.745A>G (p.Met249Val) rs3769838 0.00036
NM_080424.4(SP110):c.1956G>A (p.Thr652=) rs115116751 0.00016
NM_080424.4(SP110):c.351A>G (p.Thr117=) rs115460481 0.00009
NM_080424.4(SP110):c.519G>A (p.Ser173=) rs114550400 0.00006
NM_080424.4(SP110):c.989C>T (p.Thr330Met) rs141019373 0.00002
NM_080424.4(SP110):c.1815+20C>T rs199946971
NM_080424.4(SP110):c.830-20del

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