List of variants reported as uncertain significance for Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)	rs199761505	0.00034
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)	rs139276234	0.00022
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)	rs201366118	0.00017
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)	rs139636763	0.00015
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)	rs746223152	0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)	rs142684074	0.00004
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)	rs201144827	0.00003
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)	rs727504461
NM_004817.4(TJP2):c.1649AAG[1] (p.Glu551del)
NM_004817.4(TJP2):c.704G>T (p.Arg235Leu)

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