ClinVar Miner

List of variants reported as likely pathogenic for Low phospholipid associated cholelithiasis by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys)	rs757693457	0.00001
NM_000443.4(ABCB4):c.834-1G>A	rs752563752

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