List of variants reported for Cholestasis, progressive familial intrahepatic, 4 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)	rs1182781290
NM_004817.4(TJP2):c.1356G>A (p.Met452Ile)
NM_004817.4(TJP2):c.1780+2T>G	rs2538557576
NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter)	rs2538590798
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)	rs1225374015
NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del)	rs749616153
NM_004817.4(TJP2):c.975T>A (p.Ser325Arg)

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