C2608083[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6596	NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)	ABCB11 (R1057*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 6594	NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)	LOC126806400, ABCB11 (K930fs)	Duplication (frameshift variant)	Benign recurrent intrahepatic cholestasis type 2 +1 more	GPathogenic
Select item 6589	NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)	ABCB11 (R575*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 6595	NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr)	ABCB11 (R432T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 6590	NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	ABCB11 (E297G)	Single nucleotide variant (missense variant)	ABCB11-related condition +4 more	GPathogenic
Select item 6593	NM_003742.4(ABCB11):c.150+3A>C	ABCB11	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar