ClinVar Miner

List of variants reported as uncertain significance for MOGS-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_006302.3(MOGS):c.858G>C (p.Gln286His) rs202095654 0.00073
NM_006302.3(MOGS):c.1124C>T (p.Thr375Ile) rs200888878 0.00068
NM_006302.3(MOGS):c.2062G>A (p.Ala688Thr) rs186098891 0.00051
NM_006302.3(MOGS):c.2021G>A (p.Arg674Gln) rs200966949 0.00041
NM_006302.3(MOGS):c.2123G>A (p.Arg708His) rs181059661 0.00041
NM_006302.3(MOGS):c.1604G>A (p.Arg535Gln) rs199528323 0.00031
NM_006302.3(MOGS):c.298C>T (p.Arg100Cys) rs758917879 0.00023
NM_006302.3(MOGS):c.1484G>A (p.Arg495Gln) rs34075781 0.00019
NM_006302.3(MOGS):c.806G>A (p.Gly269Glu) rs201775541 0.00018
NM_006302.3(MOGS):c.1826G>A (p.Arg609His) rs377287243 0.00014
NM_006302.3(MOGS):c.1130A>G (p.Gln377Arg) rs202102671 0.00013
NM_006302.3(MOGS):c.2434C>T (p.Arg812Cys) rs368859958 0.00012
NM_006302.3(MOGS):c.1294G>A (p.Val432Ile) rs552488837 0.00010
NM_006302.3(MOGS):c.1805G>A (p.Cys602Tyr) rs372460563 0.00008
NM_006302.3(MOGS):c.1052G>C (p.Arg351Thr) rs368536824 0.00006
NM_006302.3(MOGS):c.1111C>T (p.Arg371Cys) rs776830090 0.00006
NM_006302.3(MOGS):c.1162C>G (p.Gln388Glu) rs750125568 0.00006
NM_006302.3(MOGS):c.183G>T (p.Trp61Cys) rs756379257 0.00006
NM_006302.3(MOGS):c.754G>T (p.Asp252Tyr) rs758528211 0.00006
NM_006302.3(MOGS):c.863G>A (p.Arg288Gln) rs374993988 0.00006
NM_006302.3(MOGS):c.173C>T (p.Ser58Leu) rs749393728 0.00005
NM_006302.3(MOGS):c.2336G>A (p.Arg779Gln) rs774648411 0.00005
NM_006302.3(MOGS):c.2389C>T (p.Arg797Cys) rs554882882 0.00005
NM_006302.3(MOGS):c.1189G>A (p.Gly397Ser) rs376850183 0.00004
NM_006302.3(MOGS):c.1588G>A (p.Asp530Asn) rs749160883 0.00004
NM_006302.3(MOGS):c.1825C>T (p.Arg609Cys) rs369797433 0.00004
NM_006302.3(MOGS):c.2138T>C (p.Leu713Pro) rs748734282 0.00004
NM_006302.3(MOGS):c.456C>G (p.Asp152Glu) rs201772113 0.00004
NM_006302.3(MOGS):c.476A>T (p.Gln159Leu) rs776263791 0.00004
NM_006302.3(MOGS):c.62G>A (p.Arg21Lys) rs755120968 0.00004
NM_006302.3(MOGS):c.1201G>A (p.Gly401Arg) rs760835807 0.00003
NM_006302.3(MOGS):c.2243C>A (p.Pro748His) rs369937053 0.00003
NM_006302.3(MOGS):c.2345A>G (p.Lys782Arg) rs775094626 0.00003
NM_006302.3(MOGS):c.2363G>A (p.Arg788His) rs199724485 0.00003
NM_006302.3(MOGS):c.2470G>A (p.Gly824Ser) rs778216818 0.00003
NM_006302.3(MOGS):c.436T>G (p.Tyr146Asp) rs576166441 0.00003
NM_006302.3(MOGS):c.65C>A (p.Ala22Glu) rs753961807 0.00003
NM_006302.3(MOGS):c.721C>T (p.Arg241Cys) rs745844848 0.00003
NM_006302.3(MOGS):c.1061G>A (p.Gly354Asp) rs200348131 0.00002
NM_006302.3(MOGS):c.1072A>T (p.Thr358Ser) rs371692461 0.00002
NM_006302.3(MOGS):c.1382G>A (p.Arg461Gln) rs200061009 0.00002
NM_006302.3(MOGS):c.1466T>C (p.Ile489Thr) rs760160297 0.00002
NM_006302.3(MOGS):c.1490G>A (p.Arg497Gln) rs772550239 0.00002
NM_006302.3(MOGS):c.206G>A (p.Arg69Gln) rs374933674 0.00002
NM_006302.3(MOGS):c.2152G>A (p.Asp718Asn) rs747152213 0.00002
NM_006302.3(MOGS):c.2362C>T (p.Arg788Cys) rs374527950 0.00002
NM_006302.3(MOGS):c.2444G>A (p.Arg815Gln) rs778832533 0.00002
NM_006302.3(MOGS):c.407C>T (p.Thr136Met) rs1287495585 0.00002
NM_006302.3(MOGS):c.418G>C (p.Gly140Arg) rs760685740 0.00002
NM_006302.3(MOGS):c.901C>T (p.Pro301Ser) rs1390934890 0.00002
NM_006302.3(MOGS):c.94G>A (p.Gly32Ser) rs774950414 0.00002
NM_006302.3(MOGS):c.98G>T (p.Arg33Leu) rs934016068 0.00002
NM_006302.3(MOGS):c.1004T>C (p.Val335Ala) rs769788871 0.00001
NM_006302.3(MOGS):c.1039C>A (p.Gln347Lys) rs778176484 0.00001
NM_006302.3(MOGS):c.103G>A (p.Gly35Ser) rs908587926 0.00001
NM_006302.3(MOGS):c.1112G>A (p.Arg371His) rs771053284 0.00001
NM_006302.3(MOGS):c.119C>T (p.Thr40Met) rs769430992 0.00001
NM_006302.3(MOGS):c.122C>T (p.Ala41Val) rs910079139 0.00001
NM_006302.3(MOGS):c.1246G>A (p.Gly416Arg) rs751395514 0.00001
NM_006302.3(MOGS):c.1322G>A (p.Arg441Gln) rs745360345 0.00001
NM_006302.3(MOGS):c.1461G>C (p.Glu487Asp) rs1240890677 0.00001
NM_006302.3(MOGS):c.1489C>T (p.Arg497Trp) rs1213805068 0.00001
NM_006302.3(MOGS):c.1517G>A (p.Arg506Gln) rs757364620 0.00001
NM_006302.3(MOGS):c.1528G>A (p.Ala510Thr) rs913447572 0.00001
NM_006302.3(MOGS):c.1529C>G (p.Ala510Gly) rs976305108 0.00001
NM_006302.3(MOGS):c.1625A>G (p.His542Arg) rs754338562 0.00001
NM_006302.3(MOGS):c.1679dup (p.Tyr560Ter) rs1178323891 0.00001
NM_006302.3(MOGS):c.1688G>A (p.Arg563Gln) rs769741414 0.00001
NM_006302.3(MOGS):c.1693C>T (p.Arg565Trp) rs745841543 0.00001
NM_006302.3(MOGS):c.169A>G (p.Met57Val) rs1244494488 0.00001
NM_006302.3(MOGS):c.1760G>A (p.Arg587Gln) rs750912161 0.00001
NM_006302.3(MOGS):c.1787G>A (p.Arg596Gln) rs759477236 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_006302.3(MOGS):c.1892C>T (p.Ala631Val) rs752324076 0.00001
NM_006302.3(MOGS):c.1915A>C (p.Ser639Arg) rs1197857012 0.00001
NM_006302.3(MOGS):c.1924G>A (p.Glu642Lys) rs776033415 0.00001
NM_006302.3(MOGS):c.1928T>G (p.Leu643Arg) rs368038442 0.00001
NM_006302.3(MOGS):c.1937C>T (p.Ala646Val) rs536613092 0.00001
NM_006302.3(MOGS):c.1978A>C (p.Lys660Gln) rs1366931512 0.00001
NM_006302.3(MOGS):c.1981G>A (p.Ala661Thr) rs757907116 0.00001
NM_006302.3(MOGS):c.2020C>T (p.Arg674Trp) rs760636403 0.00001
NM_006302.3(MOGS):c.20G>A (p.Arg7Gln) rs534041573 0.00001
NM_006302.3(MOGS):c.2158C>T (p.Arg720Cys) rs779843206 0.00001
NM_006302.3(MOGS):c.2270A>G (p.Asn757Ser) rs1671903517 0.00001
NM_006302.3(MOGS):c.2314C>A (p.Leu772Met) rs367975640 0.00001
NM_006302.3(MOGS):c.2386T>C (p.Trp796Arg) rs751932696 0.00001
NM_006302.3(MOGS):c.2390G>A (p.Arg797His) rs763518275 0.00001
NM_006302.3(MOGS):c.2505A>C (p.Glu835Asp) rs760335216 0.00001
NM_006302.3(MOGS):c.2509T>C (p.Tyr837His) rs3191651 0.00001
NM_006302.3(MOGS):c.386G>A (p.Gly129Glu) rs749846238 0.00001
NM_006302.3(MOGS):c.397C>A (p.Leu133Ile) rs750032065 0.00001
NM_006302.3(MOGS):c.416A>T (p.Gln139Leu) rs766434425 0.00001
NM_006302.3(MOGS):c.579+6G>A rs1191203458 0.00001
NM_006302.3(MOGS):c.587G>A (p.Gly196Asp) rs1257661743 0.00001
NM_006302.3(MOGS):c.722G>A (p.Arg241His) rs1008354442 0.00001
NM_006302.3(MOGS):c.745A>T (p.Ser249Cys) rs1407300243 0.00001
NM_006302.3(MOGS):c.782A>G (p.Asn261Ser) rs750824295 0.00001
NM_006302.3(MOGS):c.784G>A (p.Val262Ile) rs1468341767 0.00001
NM_006302.3(MOGS):c.821C>T (p.Thr274Ile) rs1350968740 0.00001
NM_006302.3(MOGS):c.838C>T (p.Arg280Cys) rs372551243 0.00001
NM_006302.3(MOGS):c.851G>A (p.Trp284Ter) rs749476593 0.00001
NM_006302.3(MOGS):c.875C>A (p.Ala292Asp) rs762463041 0.00001
NM_006302.3(MOGS):c.886C>T (p.Arg296Cys) rs752641712 0.00001
NM_006302.3(MOGS):c.931C>T (p.Pro311Ser) rs753466617 0.00001
NC_000002.11:g.(?_74691603)_(74692374_?)dup
NM_006302.3(MOGS):c.1009G>A (p.Glu337Lys)
NM_006302.3(MOGS):c.1019G>A (p.Ser340Asn)
NM_006302.3(MOGS):c.1024C>G (p.Gln342Glu) rs893214845
NM_006302.3(MOGS):c.1043C>T (p.Ala348Val)
NM_006302.3(MOGS):c.1049C>G (p.Pro350Arg) rs754475101
NM_006302.3(MOGS):c.1108G>A (p.Glu370Lys)
NM_006302.3(MOGS):c.110C>T (p.Pro37Leu) rs984549045
NM_006302.3(MOGS):c.1153T>C (p.Ser385Pro) rs1225737728
NM_006302.3(MOGS):c.1164G>C (p.Gln388His) rs781096789
NM_006302.3(MOGS):c.116G>A (p.Ser39Asn) rs1672032262
NM_006302.3(MOGS):c.1177G>A (p.Ala393Thr)
NM_006302.3(MOGS):c.1196T>C (p.Leu399Pro)
NM_006302.3(MOGS):c.11G>A (p.Gly4Asp)
NM_006302.3(MOGS):c.11G>C (p.Gly4Ala) rs1190367079
NM_006302.3(MOGS):c.1205T>C (p.Ile402Thr) rs772354380
NM_006302.3(MOGS):c.1219G>A (p.Gly407Arg)
NM_006302.3(MOGS):c.1250T>C (p.Val417Ala)
NM_006302.3(MOGS):c.1276C>T (p.Pro426Ser)
NM_006302.3(MOGS):c.1279G>T (p.Ala427Ser) rs760745712
NM_006302.3(MOGS):c.1294G>T (p.Val432Leu)
NM_006302.3(MOGS):c.1298C>T (p.Pro433Leu)
NM_006302.3(MOGS):c.1337G>A (p.Arg446Gln)
NM_006302.3(MOGS):c.1348T>G (p.Trp450Gly) rs2103979060
NM_006302.3(MOGS):c.1402C>T (p.Arg468Trp)
NM_006302.3(MOGS):c.142G>A (p.Val48Ile)
NM_006302.3(MOGS):c.1445G>C (p.Gly482Ala)
NM_006302.3(MOGS):c.1453G>C (p.Gly485Arg) rs2103978776
NM_006302.3(MOGS):c.1480G>A (p.Ala494Thr)
NM_006302.3(MOGS):c.14A>G (p.Glu5Gly)
NM_006302.3(MOGS):c.1520C>T (p.Ala507Val)
NM_006302.3(MOGS):c.1563T>A (p.His521Gln) rs559593629
NM_006302.3(MOGS):c.1619G>A (p.Arg540His)
NM_006302.3(MOGS):c.161C>T (p.Ala54Val)
NM_006302.3(MOGS):c.1681C>T (p.Arg561Cys)
NM_006302.3(MOGS):c.1682G>A (p.Arg561His)
NM_006302.3(MOGS):c.1684T>C (p.Trp562Arg)
NM_006302.3(MOGS):c.1687C>T (p.Arg563Trp)
NM_006302.3(MOGS):c.1723C>T (p.Pro575Ser) rs899025715
NM_006302.3(MOGS):c.1759C>T (p.Arg587Trp)
NM_006302.3(MOGS):c.1795G>C (p.Asp599His)
NM_006302.3(MOGS):c.1799_1804delinsGCTCGGTCCAG (p.Leu600fs) rs1572919848
NM_006302.3(MOGS):c.17G>A (p.Arg6Gln)
NM_006302.3(MOGS):c.1829T>A (p.Val610Glu) rs2103977576
NM_006302.3(MOGS):c.1835C>G (p.Thr612Arg) rs371586378
NM_006302.3(MOGS):c.1835C>T (p.Thr612Met) rs371586378
NM_006302.3(MOGS):c.1837C>T (p.Arg613Trp)
NM_006302.3(MOGS):c.1841T>G (p.Leu614Arg) rs930766378
NM_006302.3(MOGS):c.1845_1846insT (p.Glu616Ter) rs2103977523
NM_006302.3(MOGS):c.1855G>A (p.Gly619Ser)
NM_006302.3(MOGS):c.1871C>G (p.Ala624Gly)
NM_006302.3(MOGS):c.1916G>A (p.Ser639Asn) rs1481203014
NM_006302.3(MOGS):c.1949G>A (p.Gly650Glu)
NM_006302.3(MOGS):c.1961A>G (p.Asp654Gly) rs1572919705
NM_006302.3(MOGS):c.1961A>T (p.Asp654Val) rs1572919705
NM_006302.3(MOGS):c.1976C>T (p.Thr659Ile)
NM_006302.3(MOGS):c.1988dup (p.Leu664fs) rs1558564895
NM_006302.3(MOGS):c.2003C>T (p.Pro668Leu) rs536491124
NM_006302.3(MOGS):c.2006C>T (p.Pro669Leu) rs368567616
NM_006302.3(MOGS):c.2011G>T (p.Gly671Trp)
NM_006302.3(MOGS):c.2018T>C (p.Val673Ala) rs1572919630
NM_006302.3(MOGS):c.2021G>C (p.Arg674Pro)
NM_006302.3(MOGS):c.2021G>T (p.Arg674Leu) rs200966949
NM_006302.3(MOGS):c.2033G>A (p.Arg678Gln) rs776932912
NM_006302.3(MOGS):c.2033G>T (p.Arg678Leu) rs776932912
NM_006302.3(MOGS):c.2051A>C (p.Gln684Pro)
NM_006302.3(MOGS):c.208C>G (p.Arg70Gly)
NM_006302.3(MOGS):c.208C>T (p.Arg70Trp) rs1022588391
NM_006302.3(MOGS):c.2090T>C (p.Leu697Ser) rs1382859530
NM_006302.3(MOGS):c.2099G>A (p.Arg700Gln)
NM_006302.3(MOGS):c.2122C>T (p.Arg708Cys)
NM_006302.3(MOGS):c.2154C>A (p.Asp718Glu) rs1671907085
NM_006302.3(MOGS):c.2157C>A (p.Ser719Arg) rs1671907003
NM_006302.3(MOGS):c.2185C>G (p.Arg729Gly) rs777010548
NM_006302.3(MOGS):c.2213A>G (p.Tyr738Cys)
NM_006302.3(MOGS):c.2224A>C (p.Asn742His) rs1283895621
NM_006302.3(MOGS):c.2227T>G (p.Ser743Ala) rs1671904864
NM_006302.3(MOGS):c.2228C>G (p.Ser743Ter)
NM_006302.3(MOGS):c.2252G>A (p.Arg751Gln)
NM_006302.3(MOGS):c.2264G>T (p.Trp755Leu) rs1461055157
NM_006302.3(MOGS):c.2321G>T (p.Gly774Val)
NM_006302.3(MOGS):c.2332G>A (p.Ala778Thr)
NM_006302.3(MOGS):c.2375T>C (p.Val792Ala) rs757464083
NM_006302.3(MOGS):c.237T>A (p.Pro79=)
NM_006302.3(MOGS):c.2398C>T (p.Gln800Ter) rs753261712
NM_006302.3(MOGS):c.2422C>A (p.Gln808Lys) rs995479690
NM_006302.3(MOGS):c.2422C>T (p.Gln808Ter)
NM_006302.3(MOGS):c.2458C>T (p.Arg820Cys)
NM_006302.3(MOGS):c.2471G>A (p.Gly824Asp)
NM_006302.3(MOGS):c.2476A>G (p.Thr826Ala) rs1558564232
NM_006302.3(MOGS):c.2500del (p.Ala834fs) rs1296169573
NM_006302.3(MOGS):c.2513G>T (p.Ter838Leu) rs201823585
NM_006302.3(MOGS):c.262C>A (p.Pro88Thr) rs866878210
NM_006302.3(MOGS):c.290G>A (p.Gly97Glu) rs1572922297
NM_006302.3(MOGS):c.301C>T (p.Pro101Ser) rs2103985234
NM_006302.3(MOGS):c.311A>C (p.Tyr104Ser) rs1553380245
NM_006302.3(MOGS):c.344T>A (p.Leu115His) rs1265589563
NM_006302.3(MOGS):c.352+18C>T
NM_006302.3(MOGS):c.35C>T (p.Pro12Leu)
NM_006302.3(MOGS):c.37G>T (p.Ala13Ser) rs1187849918
NM_006302.3(MOGS):c.400A>G (p.Arg134Gly) rs1672015747
NM_006302.3(MOGS):c.400A>T (p.Arg134Trp)
NM_006302.3(MOGS):c.406A>T (p.Thr136Ser)
NM_006302.3(MOGS):c.410G>A (p.Cys137Tyr) rs762952481
NM_006302.3(MOGS):c.417G>C (p.Gln139His) rs1672015268
NM_006302.3(MOGS):c.418G>A (p.Gly140Arg)
NM_006302.3(MOGS):c.41A>T (p.Glu14Val)
NM_006302.3(MOGS):c.434C>T (p.Pro145Leu)
NM_006302.3(MOGS):c.448T>C (p.Phe150Leu) rs780436912
NM_006302.3(MOGS):c.454G>C (p.Asp152His)
NM_006302.3(MOGS):c.476A>C (p.Gln159Pro)
NM_006302.3(MOGS):c.478C>T (p.His160Tyr)
NM_006302.3(MOGS):c.480C>G (p.His160Gln) rs1303532263
NM_006302.3(MOGS):c.532G>A (p.Gly178Ser) rs1214300593
NM_006302.3(MOGS):c.562G>A (p.Val188Met) rs746611980
NM_006302.3(MOGS):c.568G>A (p.Val190Ile)
NM_006302.3(MOGS):c.595G>A (p.Ala199Thr)
NM_006302.3(MOGS):c.602C>T (p.Pro201Leu)
NM_006302.3(MOGS):c.617TCT[1] (p.Phe207del) rs1671983338
NM_006302.3(MOGS):c.660G>C (p.Glu220Asp) rs759959086
NM_006302.3(MOGS):c.662T>C (p.Val221Ala)
NM_006302.3(MOGS):c.671A>C (p.Lys224Thr) rs1671981391
NM_006302.3(MOGS):c.676C>A (p.Gln226Lys)
NM_006302.3(MOGS):c.692G>T (p.Ser231Ile)
NM_006302.3(MOGS):c.704G>A (p.Ser235Asn)
NM_006302.3(MOGS):c.712G>C (p.Gly238Arg)
NM_006302.3(MOGS):c.71G>C (p.Arg24Pro) rs750801906
NM_006302.3(MOGS):c.737C>T (p.Pro246Leu) rs1671978796
NM_006302.3(MOGS):c.752G>A (p.Gly251Glu) rs2103981412
NM_006302.3(MOGS):c.755A>T (p.Asp252Val)
NM_006302.3(MOGS):c.758C>T (p.Thr253Ile) rs2103981399
NM_006302.3(MOGS):c.760G>A (p.Ala254Thr) rs752804401
NM_006302.3(MOGS):c.767A>C (p.Lys256Thr)
NM_006302.3(MOGS):c.7C>G (p.Arg3Gly)
NM_006302.3(MOGS):c.7C>T (p.Arg3Trp) rs1246940304
NM_006302.3(MOGS):c.800A>C (p.Asn267Thr) rs1671971903
NM_006302.3(MOGS):c.828G>A (p.Met276Ile) rs1558566109
NM_006302.3(MOGS):c.839G>C (p.Arg280Pro)
NM_006302.3(MOGS):c.83G>A (p.Gly28Glu) rs2103986028
NM_006302.3(MOGS):c.874G>C (p.Ala292Pro) rs763544524
NM_006302.3(MOGS):c.874G>T (p.Ala292Ser)
NM_006302.3(MOGS):c.880C>G (p.Pro294Ala) rs548283434
NM_006302.3(MOGS):c.884A>G (p.Glu295Gly)
NM_006302.3(MOGS):c.896G>T (p.Gly299Val) rs2103980536
NM_006302.3(MOGS):c.89G>C (p.Arg30Pro) rs1257979415
NM_006302.3(MOGS):c.900G>T (p.Leu300Phe) rs886745696
NM_006302.3(MOGS):c.905G>A (p.Gly302Glu) rs781577738
NM_006302.3(MOGS):c.925A>G (p.Arg309Gly) rs1558565949
NM_006302.3(MOGS):c.937G>A (p.Gly313Arg) rs2103980326
NM_006302.3(MOGS):c.944G>A (p.Gly315Glu)
NM_006302.3(MOGS):c.947A>T (p.Gln316Leu) rs1553379896
NM_006302.3(MOGS):c.949G>A (p.Gly317Arg)
NM_006302.3(MOGS):c.950G>A (p.Gly317Glu)
NM_006302.3(MOGS):c.992C>T (p.Ser331Phe) rs1572920656

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