List of variants studied for biliary tract disorder by Genetics and Molecular Pathology, SA Pathology

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001966.4(EHHADH):c.910+7C>A	rs17283799	0.00874
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	rs183885357	0.00200
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)	rs374340059	0.00004
NM_004817.4(TJP2):c.428T>C (p.Met143Thr)	rs1011824757	0.00003
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)	rs377160065	0.00001
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val)	rs1554401811
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)	rs770257115
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)
NM_003742.4(ABCB11):c.99-2A>G

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