ClinVar Miner

List of variants in gene COL1A1 reported as likely pathogenic by Ambry Genetics

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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: 1

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HGVS	dbSNP
NM_000088.3(COL1A1):c.388G>T (p.Gly130Cys)	rs1555575085

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