ClinVar Miner

List of variants reported as likely pathogenic for ALG6-congenital disorder of glycosylation 1C by Natera, Inc.

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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_013339.4(ALG6):c.902+1G>A	rs1036516188	0.00003
NM_013339.4(ALG6):c.634dup (p.Cys212fs)	rs879133727
NM_013339.4(ALG6):c.82_82+8del	rs1424742651

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