List of variants reported as pathogenic for bilirubin metabolism disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)	rs72549395	0.00004
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)	rs786205465
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)	rs752916287
NM_003742.4(ABCB11):c.379del (p.Thr127fs)	rs1558927163

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