ClinVar Miner

List of variants reported as pathogenic for Crigler-Najjar syndrome type 2

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP
NM_000463.2(UGT1A1):c.1069C>T (p.Gln357Ter) rs72551350
NM_000463.2(UGT1A1):c.1198A>G (p.Asn400Asp) rs28934877
NM_000463.2(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780
NM_000463.2(UGT1A1):c.222C>A (p.Tyr74Ter) rs72551340
NM_000463.2(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.2(UGT1A1):c.524T>A (p.Leu175Gln) rs72551341
NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000463.2(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348
UGT1A1*28 rs3064744
UGT1A1, 1-BP DEL, 1223A

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