ClinVar Miner

List of variants reported as pathogenic for Crigler-Najjar syndrome

Included ClinVar conditions (4):
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Total variants: 24
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HGVS dbSNP
NM_000463.2(UGT1A1):c.1021C>T (p.Arg341Ter) rs72551349
NM_000463.2(UGT1A1):c.1070A>G (p.Gln357Arg) rs72551351
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.991C>T (p.Gln331Ter) rs111033539
NM_000463.2(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348
NM_001072.4(UGT1A6):c.1003C>T (p.Arg335Trp) rs139607673
NM_001072.4(UGT1A6):c.1082-2A>G rs587776766
NM_001072.4(UGT1A6):c.1121C>T (p.Ser374Phe) rs72551353
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.862-5882G>C rs587776764
NM_001072.4(UGT1A6):c.862-5907C>A rs281865418
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001072.4(UGT1A6):c.862-6125_862-6122dup rs766536479
NM_001072.4(UGT1A6):c.862-6234_862-6232del rs587776762
NM_001072.4(UGT1A6):c.862-6273_862-6272insT rs587776763
NM_001072.4(UGT1A6):c.862-6394dup rs748219743
NM_001072.4(UGT1A6):c.862-6525C>A rs72551340
NM_001072.4(UGT1A6):c.862-6602C>T rs587776765
NM_001072.4(UGT1A6):c.874_887delinsA (p.Tyr292fs) rs587776761
NM_001072.4(UGT1A6):c.920G>A (p.Gly307Glu) rs62625011
UGT1A1*28 rs3064744
UGT1A1, 1-BP DEL, 1223A

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