ClinVar Miner

List of variants reported as uncertain significance for bilirubin metabolism disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
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.1231G>T (p.Val411Leu) rs36076514 0.00006
NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu) rs587784536 0.00004
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) rs587784538 0.00001
NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=) rs587784537
NM_000463.3(UGT1A1):c.141C>A (p.Ile47=) rs34526305
NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr) rs587784539
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu) rs587784540

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