List of variants in gene ALG8 reported as likely pathogenic for congenital disorder of glycosylation type I

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024079.5(ALG8):c.478+1G>A	rs139832787	0.00052
NM_024079.5(ALG8):c.673+4A>G	rs1470636347	0.00003
NM_024079.5(ALG8):c.368+2T>G	rs756894409	0.00001
NM_024079.5(ALG8):c.95+1G>A	rs1323512637	0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs)	rs777686455	0.00001
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)	rs200888240
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)	rs1859771094
NM_024079.5(ALG8):c.174+2del
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu)	rs748962880
NM_024079.5(ALG8):c.368+1G>A
NM_024079.5(ALG8):c.761dup (p.Pro255fs)	rs968741434
NM_024079.5(ALG8):c.802del (p.Arg268fs)	rs2136899636
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)	rs121908294

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