ClinVar Miner

List of variants in gene ATP8B1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His)	rs745546266	0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)	rs765889649	0.00001

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