List of variants in gene ABCB11 reported as uncertain significance for Benign recurrent intrahepatic cholestasis type 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)	rs141862495	0.00040
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)	rs377170187	0.00033
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)	rs200870815	0.00023
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)	rs201800225	0.00006
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly)	rs1558898919
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro)	rs1553545883
NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr)	rs776561679

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