ClinVar Miner

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

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Total variants: 25
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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.1421G>A (p.Trp474Ter) rs548386762 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_006302.3(MOGS):c.422del (p.Asp141fs) rs1199925815 0.00001
NM_006302.3(MOGS):c.54dup (p.Ala19fs) rs1341709717 0.00001
NC_000002.11:g.(?_72359356)_(74779761_?)del
NC_000002.12:g.(?_74461255)_(74465267_?)del
NM_006302.2(MOGS):c.[329G>A;65C>A]
NM_006302.3(MOGS):c.1142dup (p.Leu383fs) rs2529496405
NM_006302.3(MOGS):c.1204del (p.Ile402fs) rs2529496158
NM_006302.3(MOGS):c.1222del (p.Gln408fs) rs2529496078
NM_006302.3(MOGS):c.1250dup (p.Glu418fs)
NM_006302.3(MOGS):c.1385G>A (p.Trp462Ter) rs886349456
NM_006302.3(MOGS):c.1457G>C (p.Arg486Thr) rs121909291
NM_006302.3(MOGS):c.1513C>T (p.Gln505Ter) rs1671936359
NM_006302.3(MOGS):c.1516C>T (p.Arg506Ter)
NM_006302.3(MOGS):c.1954T>C (p.Phe652Leu) rs121909292
NM_006302.3(MOGS):c.287G>A (p.Trp96Ter) rs781577192
NM_006302.3(MOGS):c.551G>A (p.Trp184Ter) rs2529503222
NM_006302.3(MOGS):c.832_833del (p.Lys278fs) rs781260708
NM_006302.3(MOGS):c.881del (p.Pro294fs) rs750486813
NM_006302.3(MOGS):c.94_95insTCCG (p.Gly32fs) rs2529505867

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