List of variants in gene UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 studied for Crigler-Najjar syndrome type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	rs34946978	0.00053
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	rs35003977	0.00034
NM_000463.3(UGT1A1):c.864+1G>C	rs587776764	0.00006
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	rs72551349	0.00002
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe)	rs72551353	0.00001
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)	rs62625011	0.00001
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg)	rs72551351
NM_000463.3(UGT1A1):c.1085-2A>G	rs587776766
NM_000463.3(UGT1A1):c.1173G>A (p.Met391Ile)
NM_000463.3(UGT1A1):c.1208G>T (p.Arg403Leu)
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter)	rs587776765
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	rs748219743
NM_000463.3(UGT1A1):c.380_381insGG (p.Cys127fs)	rs2125987009
NM_000463.3(UGT1A1):c.389dup (p.Leu130fs)	rs2125987072
NM_000463.3(UGT1A1):c.474_475insT (p.Ile159fs)	rs587776763
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu)	rs587784540
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del)	rs587776762
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)	rs797046091
NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter)	rs281865418
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs)	rs587776761
NM_000463.3(UGT1A1):c.931del (p.Val311fs)	rs2126030394
NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter)	rs111033539

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