ClinVar Miner

List of variants studied for Progressive familial intrahepatic cholestasis type 3 by Genomics And Bioinformatics Analysis Resource, Columbia University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter) rs1554407511 0.00001

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