List of variants studied for Progressive familial intrahepatic cholestasis type 3 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)	rs121918440	0.00002
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)	rs121918443
NM_000443.4(ABCB4):c.1712del (p.Val571fs)	rs387906527
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs)	rs387906529
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs)	rs387906526

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