List of variants reported as likely pathogenic for cholestasis, progressive familial intrahepatic, 5

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001206979.2(NR1H4):c.1034del (p.Pro345fs)	rs1593114820
NM_001206979.2(NR1H4):c.831+1G>T	rs1555335782
NM_001206979.2(NR1H4):c.887C>T (p.Thr296Ile)	rs1251445242
NM_001206979.2(NR1H4):c.976G>C (p.Gly326Arg)

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