List of variants in gene ABCB11 studied for Progressive familial intrahepatic cholestasis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	rs188824058	0.00013
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	rs11568372	0.00011
NM_003742.4(ABCB11):c.2012-8T>G	rs769910565	0.00006
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	rs763782349	0.00003
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile)	rs886055066	0.00002
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	rs752043324	0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)	rs917981474	0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)	rs772294884	0.00001
NM_003742.4(ABCB11):c.*193G>C	rs886055061
NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter)
NM_003742.4(ABCB11):c.2075+2T>C	rs1574445178
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	rs867525294
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	rs1382100120
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)	rs1418620415
NM_003742.4(ABCB11):c.99-2A>G

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