List of variants reported as likely pathogenic for biliary tract disorder by 3billion, Medical Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)	rs141677867	0.00001
NM_001371395.1(USP53):c.205C>T (p.Gln69Ter)	rs1748101805	0.00001
NM_001371395.1(USP53):c.331C>T (p.Arg111Ter)	rs767460503	0.00001
NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs)
NM_000214.3(JAG1):c.190del (p.Arg64fs)
NM_000214.3(JAG1):c.2931del (p.Glu977fs)	rs2122595901
NM_000214.3(JAG1):c.647del (p.Gly216fs)
NM_001371395.1(USP53):c.158T>A (p.Leu53Ter)	rs2149341072
NM_001371395.1(USP53):c.78_79dup (p.Ala27fs)
NM_001371395.1(USP53):c.972+3_972+6del
NM_001371395.1(USP53):c.973-1G>A
NM_001388308.1(KIF12):c.430del (p.Ala144fs)
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)	rs1382100120

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