ClinVar Miner

List of variants in gene SP110 reported as likely benign for Hepatic veno-occlusive disease-immunodeficiency syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.1464C>T (p.Cys488=) rs147355697 0.00399
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.1200C>T (p.Asp400=) rs115361843 0.00047
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.1974A>G (p.Ala658=) rs200463093 0.00012
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.1395C>T (p.Pro465=) rs767345511 0.00006
NM_080424.4(SP110):c.1590+13C>T rs144063651 0.00006
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.1254A>G (p.Lys418=) rs201494565 0.00002
NM_080424.4(SP110):c.2118C>T (p.Asp706=) rs115945163 0.00002
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.2061A>G (p.Leu687=) rs756202587 0.00001
NM_080424.4(SP110):c.2091C>T (p.Asp697=) rs201752781 0.00001
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.1447+13G>A rs1277504177
NM_080424.4(SP110):c.1448-13C>T
NM_080424.4(SP110):c.1485T>G (p.Thr495=) rs891497587
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.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=)

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.