ClinVar Miner

List of variants in gene combination UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 reported as uncertain significance for Crigler-Najjar syndrome type 2

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) rs114982090 0.00018
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) rs143033456 0.00009
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) rs55750087 0.00003
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) rs778766461 0.00003
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val) rs886044683 0.00001
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) rs770564267 0.00001
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) rs587784538 0.00001
NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)
NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro) rs751311281
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960

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