ClinVar Miner

List of variants in gene ABCG5 reported as likely 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)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000002.11:g.(?_44047116)_(44053814_?)del
NM_022436.3(ABCG5):c.266-2A>G
NM_022436.3(ABCG5):c.403-2A>T
NM_022436.3(ABCG5):c.501+1G>A

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