List of variants in gene ALG11 reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro)	rs794727256
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)	rs267606652
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)	rs387907180
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser)	rs387907181
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly)	rs1064795802
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro)	rs387907184

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