List of variants reported as pathogenic for cholestasis, progressive familial intrahepatic, 9

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val)	rs1215965232	0.00002
NM_001077268.2(ZFYVE19):c.314C>G (p.Ser105Ter)	rs769683740	0.00001
NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter)	rs753989803	0.00001
NM_001077268.2(ZFYVE19):c.547C>T (p.Arg183Ter)	rs771251472	0.00001
NM_001077268.2(ZFYVE19):c.667C>T (p.Arg223Ter)	rs375497733	0.00001
NM_001077268.2(ZFYVE19):c.379C>T (p.Gln127Ter)	rs1890395046

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