List of variants in gene SLC10A1 reported as pathogenic for inborn disorder of bile acid synthesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe)	rs2296651	0.00251
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr)	rs148467625	0.00074
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His)	rs147226818	0.00020
NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter)	rs200282964	0.00002

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