List of variants in gene ABCB11 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
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.3457C>T (p.Arg1153Cys)	rs72549395	0.00004
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)	rs763782349	0.00003
NM_003742.4(ABCB11):c.908+1G>A	rs147649016	0.00003
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)	rs72549396	0.00002
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter)	rs774824767	0.00001
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)	rs72549402	0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)	rs917981474	0.00001
NM_003742.4(ABCB11):c.2178+1G>A	rs1459273753	0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)	rs886043986	0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)	rs1060499579	0.00001
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)	rs72549397	0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)	rs758069019	0.00001
NM_003742.4(ABCB11):c.1069G>T (p.Gly357Ter)	rs886043935
NM_003742.4(ABCB11):c.1271del (p.Asn424fs)	rs886043703
NM_003742.4(ABCB11):c.1354_1427del (p.Ala452fs)	rs1574453486
NM_003742.4(ABCB11):c.150+1G>A	rs886043875
NM_003742.4(ABCB11):c.1631del (p.Leu544fs)	rs1553466489
NM_003742.4(ABCB11):c.167C>G (p.Ser56Ter)	rs11568361
NM_003742.4(ABCB11):c.1810-1G>A	rs1553466082
NM_003742.4(ABCB11):c.1948del (p.Tyr650fs)	rs1558894166
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)	rs1064797270
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)	rs72549399
NM_003742.4(ABCB11):c.2950del (p.Cys984fs)	rs1559183490
NM_003742.4(ABCB11):c.379del (p.Thr127fs)	rs1558927163
NM_003742.4(ABCB11):c.390-1G>T	rs1558917090
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter)	rs1026511416
NM_003742.4(ABCB11):c.847G>T (p.Glu283Ter)	rs1558912774

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