List of variants reported as pathogenic for biliary tract disorder by Mendelics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)	rs72552778	0.00018
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	rs375315619	0.00009
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)	rs1458423947	0.00001
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)	rs1444056772	0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)	rs760153272	0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	rs377160065	0.00001
NM_001371395.1(USP53):c.1687del (p.Ser563fs)	rs1263067327	0.00001
NM_000214.3(JAG1):c.2458+1G>A	rs2122600431
NM_000214.3(JAG1):c.886+1G>A	rs1600186024
NM_000214.3(JAG1):c.903dup (p.Thr302fs)	rs2122614562
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)	rs1562976061
NM_000443.4(ABCB4):c.2682+1G>A	rs1012575668
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)	rs1562945221
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter)	rs931093296
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)	rs2105891349

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