ClinVar Miner

List of variants in gene COG7 reported as not provided for COG7 congenital disorder of glycosylation

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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: 2

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HGVS	dbSNP	gnomAD frequency
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)	rs780863769	0.00003
NM_153603.4(COG7):c.1793C>T (p.Ser598Leu)	rs754431741	0.00001

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