List of variants in gene ABCB11 studied for Familial intrahepatic cholestasis type 2

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)	rs766285158	0.00002
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)	rs764125510	0.00001
NM_003742.4(ABCB11):c.2178+2T>C	rs1693198121
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)	rs764581483
NM_003742.4(ABCB11):c.908+1G>C	rs147649016

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