List of variants in gene ABCB11 reported as likely benign for Progressive familial intrahepatic cholestasis 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: 15

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HGVS	dbSNP
NM_003742.4(ABCB11):c.*237T>C	rs548624200
NM_003742.4(ABCB11):c.*440G>A	rs79130028
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser)	rs572222881
NM_003742.4(ABCB11):c.156G>A (p.Arg52=)	rs140587295
NM_003742.4(ABCB11):c.1791G>T (p.Val597=)	rs11568371
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=)	rs750100537
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)	rs200912109
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)	rs150572999
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)	rs200087122
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)	rs145720664
NM_003742.4(ABCB11):c.3411+10G>A	rs188996270
NM_003742.4(ABCB11):c.3766-10C>T	rs369104228
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)	rs183214630
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)	rs369671177
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)	rs2287617

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