ClinVar Miner

List of variants studied for Crigler-Najjar syndrome by OMIM

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 20
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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.1085-2A>G rs587776766
NM_000463.2(UGT1A1):c.1124C>T (p.Ser375Phe) rs72551353
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.145C>T (p.Gln49Ter) rs587776765
NM_000463.2(UGT1A1):c.44T>G (p.Leu15Arg) rs111033541
NM_000463.2(UGT1A1):c.474_475insT (p.Ile159Tyrfs) rs587776763
NM_000463.2(UGT1A1):c.513_515del (p.Phe171del) rs587776762
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.840C>A (p.Cys280Ter) rs281865418
NM_000463.2(UGT1A1):c.864+1G>C rs587776764
NM_000463.2(UGT1A1):c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) rs587776761
NM_000463.2(UGT1A1):c.923G>A (p.Gly308Glu) rs62625011
NM_000463.2(UGT1A1):c.991C>T (p.Gln331Ter) rs111033539
NM_000463.2(UGT1A1):c.992A>G (p.Gln331Arg) rs72551348
UGT1A1*28 rs3064744
UGT1A1, 1-BP DEL, 1223A

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