ClinVar Miner

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

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Gene type:
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Total variants: 8
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NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348
NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) rs28934877
NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) rs34993780
NM_001072.4(UGT1A6):c.862-5912A>T rs397978903
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
UGT1A1*28 rs3064744

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