List of variants in gene ABCG8 reported as pathogenic for Sitosterolemia

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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_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	rs137852987	0.00102
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)	rs137852991	0.00013
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)	rs137852989	0.00008
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00006

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