List of variants in gene MOGS reported as pathogenic for MOGS-congenital disorder of glycosylation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter)	rs587777323	0.00007
NM_006302.3(MOGS):c.882del (p.Glu295fs)	rs765427546	0.00004
NM_006302.3(MOGS):c.1483C>T (p.Arg495Ter)	rs746601093	0.00002
NM_006302.3(MOGS):c.646del (p.Val216fs)	rs777654978	0.00002
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer)	rs1399649784	0.00001
NC_000002.12:g.(?_74461255)_(74465267_?)del
NM_006302.2(MOGS):c.[329G>A;65C>A]
NM_006302.3(MOGS):c.1142dup (p.Leu383fs)
NM_006302.3(MOGS):c.1204del (p.Ile402fs)
NM_006302.3(MOGS):c.1222del (p.Gln408fs)
NM_006302.3(MOGS):c.1385G>A (p.Trp462Ter)	rs886349456
NM_006302.3(MOGS):c.1421G>A (p.Trp474Ter)
NM_006302.3(MOGS):c.1457G>C (p.Arg486Thr)	rs121909291
NM_006302.3(MOGS):c.1513C>T (p.Gln505Ter)
NM_006302.3(MOGS):c.1954T>C (p.Phe652Leu)	rs121909292
NM_006302.3(MOGS):c.422del (p.Asp141fs)
NM_006302.3(MOGS):c.54dup (p.Ala19fs)
NM_006302.3(MOGS):c.551G>A (p.Trp184Ter)
NM_006302.3(MOGS):c.832_833del (p.Lys278fs)
NM_006302.3(MOGS):c.881del (p.Pro294fs)

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