ClinVar Miner

List of variants reported as likely pathogenic for COG8-congenital disorder of glycosylation

Included ClinVar conditions (1):

COG8-congenital disorder of glycosylation

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032382.5(COG8):c.1396del (p.Glu466fs)	rs771045945
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)	rs766244312
NM_032382.5(COG8):c.585+1G>T	rs1597225261

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