ClinVar Miner

List of variants reported as uncertain significance for Progressive familial intrahepatic cholestasis type 3 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)	rs138773456	0.00074
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu)	rs886062460	0.00001

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