List of variants studied for cholestasis, progressive familial intrahepatic, 4 by The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)	rs139314808	0.00002
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)	rs928915940	0.00001
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter)	rs748671901	0.00001
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter)	rs749009273	0.00001
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)	rs1182781290
NM_004817.4(TJP2):c.115-1G>A	rs1588080680
NM_004817.4(TJP2):c.115-2A>C	rs1588080674
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter)	rs777460754
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter)	rs1251192873
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)	rs1588117076
NM_004817.4(TJP2):c.1672-1G>A	rs1588127136
NM_004817.4(TJP2):c.2180-5T>G	rs1588135086
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)	rs1588081022

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