ClinVar Miner

List of variants studied for Gilbert syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000463.3(UGT1A1):c.*339G>C rs1042640 0.81209
NM_000463.3(UGT1A1):c.*211T>C rs10929303 0.73663
NM_000463.3(UGT1A1):c.*440G>C rs8330 0.72111
UGT1A1*6 rs4148323 0.00891
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) rs57307513 0.00041
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) rs767764203 0.00016
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=) rs138183896 0.00011
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00009
NM_000463.3(UGT1A1):c.*84T>C rs78684540 0.00007
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) rs370790922 0.00007
NM_000463.3(UGT1A1):c.*269C>T rs762669023 0.00006
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) rs775532505 0.00006
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met) rs375974892 0.00006
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu) rs747942373 0.00005
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) rs199766420 0.00005
NM_000463.3(UGT1A1):c.*461G>T rs142810023 0.00003
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala) rs140365717 0.00003
NM_000463.3(UGT1A1):c.*419T>C rs34942353 0.00002
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn) rs772037816 0.00002
NM_000463.3(UGT1A1):c.*188T>G rs200041554 0.00001
NM_000463.3(UGT1A1):c.*201G>A rs541532523 0.00001
NM_000463.3(UGT1A1):c.*674G>A rs1473113676 0.00001
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) rs769720139 0.00001
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) rs769310438 0.00001
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=) rs374655757 0.00001
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly) rs754213125 0.00001
NM_000463.3(UGT1A1):c.*133G>A rs561946796
NM_000463.3(UGT1A1):c.*301G>A rs1700551616
NM_000463.3(UGT1A1):c.*585G>T rs886055800
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) rs1699600557
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr) rs202172337
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) rs190427553
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) rs1697515818
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg) rs1191873899
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749

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