List of variants in gene ABCB11 reported as benign for benign recurrent intrahepatic cholestasis

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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: 36

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.2344-17T>C	rs853789	0.75457
NM_003742.4(ABCB11):c.909-15A>G	rs2287618	0.72659
NM_003742.4(ABCB11):c.*236A>G	rs473351	0.61693
NM_003742.4(ABCB11):c.1434+70C>T	rs2287623	0.57088
NM_003742.4(ABCB11):c.1638+32T>C	rs2241340	0.57009
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala)	rs2287622	0.57004
NM_003742.4(ABCB11):c.1638+80C>T	rs2241341	0.56946
NM_003742.4(ABCB11):c.*368G>A	rs495714	0.47735
NM_003742.4(ABCB11):c.*420A>G	rs496550	0.47337
NM_003742.4(ABCB11):c.2344-157T>G	rs860510	0.47138
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=)	rs497692	0.46166
NM_003742.4(ABCB11):c.2179-17C>A	rs853772	0.45482
NM_003742.4(ABCB11):c.99-18T>C	rs4148776	0.13692
NM_003742.4(ABCB11):c.908+108A>G	rs4148780	0.13132
NM_003742.4(ABCB11):c.1309-93G>A	rs55669065	0.07356
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val)	rs11568364	0.06201
NM_003742.4(ABCB11):c.402C>T (p.Ile134=)	rs11568377	0.05330
NM_003742.4(ABCB11):c.270T>C (p.Phe90=)	rs4148777	0.05096
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=)	rs11568359	0.02682
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=)	rs11568373	0.02633
NM_003742.4(ABCB11):c.389+8G>A	rs11568363	0.02444
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=)	rs57509552	0.01590
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=)	rs2287616	0.01137
NM_003742.4(ABCB11):c.108T>C (p.Asp36=)	rs3815675	0.01118
NM_003742.4(ABCB11):c.77-17del	rs11568375	0.01069
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)	rs1521808	0.00943
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=)	rs113099601	0.00643
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)	rs138642043	0.00495
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)	rs191649793	0.00401
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)	rs111482608	0.00107
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)	rs11568367	0.00054
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)	rs144848376	0.00039
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)	rs118109635	0.00029
NM_003742.4(ABCB11):c.-97T>C	rs568098536	0.00001
NM_003742.4(ABCB11):c.3766-34A>G	rs579275
NM_003742.4(ABCB11):c.957A>G (p.Gly319=)	rs7563233

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