ClinVar Miner

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

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Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
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.451C>T (p.Pro151Ser) rs146515106 0.00053
NM_080424.4(SP110):c.1200C>T (p.Asp400=) rs115361843 0.00047
NM_080424.4(SP110):c.459G>A (p.Ala153=) rs201957445 0.00029
NM_080424.4(SP110):c.1324T>C (p.Phe442Leu) rs115380913 0.00020
NM_080424.4(SP110):c.1968G>A (p.Thr656=) rs149050898 0.00015
NM_080424.4(SP110):c.2112C>T (p.Ala704=) rs144066858 0.00015
NM_080424.4(SP110):c.147+17C>A rs200699664 0.00014
NM_080424.4(SP110):c.1974A>G (p.Ala658=) rs200463093 0.00012
NM_080424.4(SP110):c.339G>A (p.Gln113=) rs148356804 0.00012
NM_080424.4(SP110):c.75T>C (p.Tyr25=) rs41309082 0.00012
NM_080424.4(SP110):c.898+14A>G rs200753717 0.00011
NM_080424.4(SP110):c.1591-18C>T rs199943105 0.00010
NM_080424.4(SP110):c.1170A>G (p.Gln390=) rs140086984 0.00008
NM_080424.4(SP110):c.69C>T (p.Ile23=) rs200563150 0.00008
NM_080424.4(SP110):c.237T>G (p.Ser79=) rs202135641 0.00007
NM_080424.4(SP110):c.1395C>T (p.Pro465=) rs767345511 0.00006
NM_080424.4(SP110):c.1590+13C>T rs144063651 0.00006
NM_080424.4(SP110):c.981T>C (p.Cys327=) rs202198335 0.00006
NM_080424.4(SP110):c.144C>T (p.Tyr48=) rs201435337 0.00005
NM_080424.4(SP110):c.1512C>T (p.Val504=) rs547650308 0.00004
NM_080424.4(SP110):c.1706+19C>T rs200267588 0.00004
NM_080424.4(SP110):c.1899C>T (p.Tyr633=) rs114352205 0.00004
NM_080424.4(SP110):c.618G>A (p.Ala206=) rs372578277 0.00004
NM_080424.4(SP110):c.751+9G>T rs201731985 0.00004
NM_080424.4(SP110):c.126C>T (p.Ile42=) rs139246977 0.00003
NM_080424.4(SP110):c.414G>A (p.Ala138=) rs570329901 0.00003
NM_080424.4(SP110):c.780T>C (p.Asn260=) rs368772645 0.00003
NM_080424.4(SP110):c.1101G>A (p.Thr367=) rs200621430 0.00002
NM_080424.4(SP110):c.1254A>G (p.Lys418=) rs201494565 0.00002
NM_080424.4(SP110):c.2118C>T (p.Asp706=) rs115945163 0.00002
NM_080424.4(SP110):c.417G>A (p.Leu139=) rs769837823 0.00002
NM_080424.4(SP110):c.989C>T (p.Thr330Met) rs141019373 0.00002
NM_080424.4(SP110):c.1048+16G>C rs1202943206 0.00001
NM_080424.4(SP110):c.1056T>C (p.Ile352=) rs749437023 0.00001
NM_080424.4(SP110):c.1092C>T (p.Ser364=) rs777870124 0.00001
NM_080424.4(SP110):c.1348+20C>T rs200872139 0.00001
NM_080424.4(SP110):c.1448-8T>C rs1454379529 0.00001
NM_080424.4(SP110):c.1590+10T>A rs199856620 0.00001
NM_080424.4(SP110):c.1591-4G>A rs773822608 0.00001
NM_080424.4(SP110):c.189A>G (p.Arg63=) rs1335621440 0.00001
NM_080424.4(SP110):c.2061A>G (p.Leu687=) rs756202587 0.00001
NM_080424.4(SP110):c.2091C>T (p.Asp697=) rs201752781 0.00001
NM_080424.4(SP110):c.231C>T (p.Asn77=) rs754278979 0.00001
NM_080424.4(SP110):c.261A>G (p.Gln87=) rs1311849128 0.00001
NM_080424.4(SP110):c.294G>A (p.Thr98=) rs199925122 0.00001
NM_080424.4(SP110):c.317-9C>T rs369737388 0.00001
NM_080424.4(SP110):c.498C>T (p.Ser166=) rs763110758 0.00001
NM_080424.4(SP110):c.579T>C (p.Thr193=) rs1228225343 0.00001
NM_080424.4(SP110):c.583+16C>T rs1385377290 0.00001
NM_080424.4(SP110):c.711C>T (p.Asp237=) rs1167489264 0.00001
NM_080424.4(SP110):c.1038G>A (p.Ser346=) rs7606916
NM_080424.4(SP110):c.1048+9G>A
NM_080424.4(SP110):c.1049-16A>T
NM_080424.4(SP110):c.1049-8T>C
NM_080424.4(SP110):c.1129+16T>C
NM_080424.4(SP110):c.1129+18C>A
NM_080424.4(SP110):c.1129+7C>T
NM_080424.4(SP110):c.1129+9T>G rs760607836
NM_080424.4(SP110):c.1130-12T>C
NM_080424.4(SP110):c.1137C>T (p.Ala379=) rs2148751311
NM_080424.4(SP110):c.1341C>T (p.His447=)
NM_080424.4(SP110):c.1348+9G>A rs758205605
NM_080424.4(SP110):c.1349-18G>T
NM_080424.4(SP110):c.1349-19T>C rs1574607023
NM_080424.4(SP110):c.138A>G (p.Arg46=)
NM_080424.4(SP110):c.1447+13G>A rs1277504177
NM_080424.4(SP110):c.1448-13C>T
NM_080424.4(SP110):c.147+9T>C rs2148952051
NM_080424.4(SP110):c.1485T>G (p.Thr495=) rs891497587
NM_080424.4(SP110):c.150A>G (p.Glu50=)
NM_080424.4(SP110):c.1530C>T (p.Asn510=)
NM_080424.4(SP110):c.1533A>G (p.Ala511=) rs2148714102
NM_080424.4(SP110):c.1590+16G>C
NM_080424.4(SP110):c.1590+20G>C
NM_080424.4(SP110):c.1591-10G>C rs201856437
NM_080424.4(SP110):c.1602G>T (p.Ser534=) rs756439485
NM_080424.4(SP110):c.1611C>T (p.Cys537=)
NM_080424.4(SP110):c.1653T>C (p.Thr551=)
NM_080424.4(SP110):c.1701C>G (p.Ala567=) rs925484782
NM_080424.4(SP110):c.1706+11T>G
NM_080424.4(SP110):c.1706+17C>A
NM_080424.4(SP110):c.1706+20G>C rs192671550
NM_080424.4(SP110):c.1707-11C>T
NM_080424.4(SP110):c.1707-14G>T
NM_080424.4(SP110):c.1713G>A (p.Leu571=) rs2078461254
NM_080424.4(SP110):c.1749A>C (p.Ser583=) rs1574590002
NM_080424.4(SP110):c.1770T>C (p.His590=)
NM_080424.4(SP110):c.1782C>A (p.Thr594=) rs1474040043
NM_080424.4(SP110):c.1794G>A (p.Gln598=)
NM_080424.4(SP110):c.1815+11T>A
NM_080424.4(SP110):c.1815+17C>T rs1353276974
NM_080424.4(SP110):c.1815+20C>G rs199946971
NM_080424.4(SP110):c.186C>T (p.Ser62=)
NM_080424.4(SP110):c.1888-17G>A
NM_080424.4(SP110):c.1888-22CT[3]
NM_080424.4(SP110):c.1888-4del rs1367294713
NM_080424.4(SP110):c.1902T>C (p.Gly634=)
NM_080424.4(SP110):c.1959A>G (p.Glu653=)
NM_080424.4(SP110):c.1965C>T (p.Tyr655=)
NM_080424.4(SP110):c.2029-18T>G rs2106338359
NM_080424.4(SP110):c.2029-7_2029-6del rs773164340
NM_080424.4(SP110):c.2097C>T (p.Leu699=)
NM_080424.4(SP110):c.2100T>C (p.Gly700=) rs770898382
NM_080424.4(SP110):c.2106T>C (p.His702=)
NM_080424.4(SP110):c.21C>T (p.Ala7=)
NM_080424.4(SP110):c.222G>A (p.Arg74=)
NM_080424.4(SP110):c.316+19T>C
NM_080424.4(SP110):c.316+8G>A
NM_080424.4(SP110):c.317-15C>A
NM_080424.4(SP110):c.317-16C>T
NM_080424.4(SP110):c.318T>G (p.Val106=)
NM_080424.4(SP110):c.348C>T (p.Asp116=)
NM_080424.4(SP110):c.357C>A (p.Ile119=)
NM_080424.4(SP110):c.420C>T (p.Pro140=)
NM_080424.4(SP110):c.423A>G (p.Pro141=) rs371294585
NM_080424.4(SP110):c.42G>A (p.Gln14=)
NM_080424.4(SP110):c.432C>A (p.Pro144=)
NM_080424.4(SP110):c.441A>G (p.Pro147=)
NM_080424.4(SP110):c.459G>T (p.Ala153=)
NM_080424.4(SP110):c.507C>T (p.Ile169=)
NM_080424.4(SP110):c.583+19C>A rs199743792
NM_080424.4(SP110):c.584-18T>C
NM_080424.4(SP110):c.606C>A (p.Ser202=)
NM_080424.4(SP110):c.660T>C (p.Thr220=) rs201655540
NM_080424.4(SP110):c.667+14G>T
NM_080424.4(SP110):c.668-16_668-15del
NM_080424.4(SP110):c.668-17T>A
NM_080424.4(SP110):c.751+12_751+16del
NM_080424.4(SP110):c.751+16T>G
NM_080424.4(SP110):c.751+19A>G rs180811113
NM_080424.4(SP110):c.751+19A>T rs180811113
NM_080424.4(SP110):c.829+14T>C
NM_080424.4(SP110):c.829+15T>C rs372230531
NM_080424.4(SP110):c.830-12C>A
NM_080424.4(SP110):c.867A>G (p.Lys289=)
NM_080424.4(SP110):c.898+19A>G
NM_080424.4(SP110):c.918C>T (p.His306=)
NM_080424.4(SP110):c.927A>G (p.Gln309=) rs2148861745

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