List of variants studied for biliary tract disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)	rs770377023	0.00003
NM_000214.3(JAG1):c.2048G>A (p.Arg683His)	rs200929472	0.00001
NM_000443.4(ABCB4):c.1646G>A (p.Arg549His)	rs761238221	0.00001
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)	rs141677867	0.00001
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys)	rs757693457	0.00001
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)
NM_000214.3(JAG1):c.1807G>A (p.Gly603Arg)
NM_000214.3(JAG1):c.1823_1826del (p.Gln608fs)	rs2122606213
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
NM_000214.3(JAG1):c.2328dup (p.Pro777fs)
NM_000214.3(JAG1):c.396T>A (p.Tyr132Ter)
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter)	rs2122644940
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)	rs753104429
NM_000443.4(ABCB4):c.1067C>T (p.Ala356Val)
NM_000443.4(ABCB4):c.1091C>T (p.Ala364Val)
NM_000443.4(ABCB4):c.1240G>C (p.Gly414Arg)
NM_000443.4(ABCB4):c.1318C>T (p.Gln440Ter)
NM_000443.4(ABCB4):c.1768C>T (p.Arg590Ter)
NM_000443.4(ABCB4):c.3221G>A (p.Gly1074Glu)
NM_000443.4(ABCB4):c.3295G>A (p.Glu1099Lys)
NM_000443.4(ABCB4):c.713T>C (p.Leu238Pro)
NM_000443.4(ABCB4):c.834-1G>A	rs752563752
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)	rs913644236
NM_004817.4(TJP2):c.2667+3A>G
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)	rs1225374015
NM_024408.4(NOTCH2):c.1450C>T (p.Pro484Ser)
NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser)	rs2101122120
NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile)
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val)	rs1649454489
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)

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