List of variants in gene ABCG5 reported as benign 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)	rs145164937	0.00190
NM_022436.3(ABCG5):c.27C>T (p.Pro9=)	rs72542428	0.00033
NM_022436.3(ABCG5):c.442C>T (p.Leu148=)	rs143444046	0.00033
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)	rs72542426
NM_022436.3(ABCG5):c.501+11C>A
NM_022436.3(ABCG5):c.501+11dup	rs200655485
NM_022436.3(ABCG5):c.501+16del

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