ClinVar Miner

List of variants studied for MOGS-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NC_000002.12:g.(?_74461255)_(74465267_?)del
NM_006302.3(MOGS):c.1024C>G (p.Gln342Glu) rs893214845
NM_006302.3(MOGS):c.103G>A (p.Gly35Ser) rs908587926
NM_006302.3(MOGS):c.1049C>G (p.Pro350Arg) rs754475101
NM_006302.3(MOGS):c.1052G>C (p.Arg351Thr) rs368536824
NM_006302.3(MOGS):c.1061G>A (p.Gly354Asp)
NM_006302.3(MOGS):c.1072A>T (p.Thr358Ser) rs371692461
NM_006302.3(MOGS):c.1111C>T (p.Arg371Cys) rs776830090
NM_006302.3(MOGS):c.1112G>A (p.Arg371His)
NM_006302.3(MOGS):c.1124C>T (p.Thr375Ile) rs200888878
NM_006302.3(MOGS):c.1130A>G (p.Gln377Arg)
NM_006302.3(MOGS):c.1153T>C (p.Ser385Pro)
NM_006302.3(MOGS):c.1164G>C (p.Gln388His) rs781096789
NM_006302.3(MOGS):c.116G>A (p.Ser39Asn)
NM_006302.3(MOGS):c.1201G>A (p.Gly401Arg)
NM_006302.3(MOGS):c.1245C>G (p.Ile415Met) rs34838944
NM_006302.3(MOGS):c.1245C>T (p.Ile415=)
NM_006302.3(MOGS):c.1279G>T (p.Ala427Ser)
NM_006302.3(MOGS):c.1294G>A (p.Val432Ile)
NM_006302.3(MOGS):c.1294G>C (p.Val432Leu) rs552488837
NM_006302.3(MOGS):c.12C>G (p.Gly4=) rs555329045
NM_006302.3(MOGS):c.1322G>A (p.Arg441Gln)
NM_006302.3(MOGS):c.1461G>C (p.Glu487Asp)
NM_006302.3(MOGS):c.1484G>A (p.Arg495Gln) rs34075781
NM_006302.3(MOGS):c.1490G>A (p.Arg497Gln)
NM_006302.3(MOGS):c.1509A>C (p.Leu503=) rs759481390
NM_006302.3(MOGS):c.1528G>A (p.Ala510Thr)
NM_006302.3(MOGS):c.1563T>A (p.His521Gln)
NM_006302.3(MOGS):c.1581C>A (p.Asp527Glu) rs200508287
NM_006302.3(MOGS):c.1587C>T (p.Asp529=) rs190772368
NM_006302.3(MOGS):c.1604G>A (p.Arg535Gln)
NM_006302.3(MOGS):c.169A>G (p.Met57Val)
NM_006302.3(MOGS):c.1799_1804delinsGCTCGGTCCAG (p.Leu600fs)
NM_006302.3(MOGS):c.1825C>T (p.Arg609Cys) rs369797433
NM_006302.3(MOGS):c.1826G>A (p.Arg609His) rs377287243
NM_006302.3(MOGS):c.1835C>T (p.Thr612Met)
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006302.3(MOGS):c.183G>T (p.Trp61Cys)
NM_006302.3(MOGS):c.1851T>A (p.His617Gln) rs199939051
NM_006302.3(MOGS):c.1892C>T (p.Ala631Val)
NM_006302.3(MOGS):c.1916G>A (p.Ser639Asn) rs1481203014
NM_006302.3(MOGS):c.1944G>A (p.Glu648=) rs201547060
NM_006302.3(MOGS):c.1961A>T (p.Asp654Val)
NM_006302.3(MOGS):c.1981G>A (p.Ala661Thr)
NM_006302.3(MOGS):c.2003C>T (p.Pro668Leu)
NM_006302.3(MOGS):c.2017G>A (p.Val673Ile) rs114933392
NM_006302.3(MOGS):c.2018T>C (p.Val673Ala)
NM_006302.3(MOGS):c.2021G>A (p.Arg674Gln)
NM_006302.3(MOGS):c.2032C>T (p.Arg678Trp) rs13405869
NM_006302.3(MOGS):c.2033G>A (p.Arg678Gln)
NM_006302.3(MOGS):c.2055T>C (p.Tyr685=) rs202094225
NM_006302.3(MOGS):c.2062G>A (p.Ala688Thr) rs186098891
NM_006302.3(MOGS):c.206G>A (p.Arg69Gln) rs374933674
NM_006302.3(MOGS):c.2112C>T (p.Pro704=) rs561758565
NM_006302.3(MOGS):c.2123G>A (p.Arg708His) rs181059661
NM_006302.3(MOGS):c.2158C>T (p.Arg720Cys)
NM_006302.3(MOGS):c.2224A>C (p.Asn742His)
NM_006302.3(MOGS):c.2243C>A (p.Pro748His) rs369937053
NM_006302.3(MOGS):c.2264G>T (p.Trp755Leu)
NM_006302.3(MOGS):c.2314C>A (p.Leu772Met)
NM_006302.3(MOGS):c.2353G>A (p.Gly785Ser) rs35533773
NM_006302.3(MOGS):c.2434C>T (p.Arg812Cys) rs368859958
NM_006302.3(MOGS):c.2444G>A (p.Arg815Gln)
NM_006302.3(MOGS):c.2476A>G (p.Thr826Ala) rs1558564232
NM_006302.3(MOGS):c.249C>G (p.Ala83=) rs764778419
NM_006302.3(MOGS):c.2500del (p.Ala834fs)
NM_006302.3(MOGS):c.2505A>C (p.Glu835Asp)
NM_006302.3(MOGS):c.262C>A (p.Pro88Thr)
NM_006302.3(MOGS):c.290G>A (p.Gly97Glu)
NM_006302.3(MOGS):c.297C>T (p.Tyr99=) rs375679925
NM_006302.3(MOGS):c.311A>C (p.Tyr104Ser) rs1553380245
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter) rs587777323
NM_006302.3(MOGS):c.375C>G (p.Gly125=)
NM_006302.3(MOGS):c.386G>A (p.Gly129Glu)
NM_006302.3(MOGS):c.397C>A (p.Leu133Ile)
NM_006302.3(MOGS):c.436T>G (p.Tyr146Asp) rs576166441
NM_006302.3(MOGS):c.476A>T (p.Gln159Leu)
NM_006302.3(MOGS):c.499A>C (p.Arg167=) rs371747622
NM_006302.3(MOGS):c.532G>A (p.Gly178Ser)
NM_006302.3(MOGS):c.562G>A (p.Val188Met)
NM_006302.3(MOGS):c.587G>A (p.Gly196Asp)
NM_006302.3(MOGS):c.646del (p.Val216fs) rs777654978
NM_006302.3(MOGS):c.664G>A (p.Gly222Arg) rs3213671
NM_006302.3(MOGS):c.745A>T (p.Ser249Cys)
NM_006302.3(MOGS):c.806G>A (p.Gly269Glu)
NM_006302.3(MOGS):c.828G>A (p.Met276Ile) rs1558566109
NM_006302.3(MOGS):c.838C>T (p.Arg280Cys)
NM_006302.3(MOGS):c.851G>A (p.Trp284Ter)
NM_006302.3(MOGS):c.858G>C (p.Gln286His) rs202095654
NM_006302.3(MOGS):c.85C>G (p.Arg29Gly) rs369653963
NM_006302.3(MOGS):c.874G>C (p.Ala292Pro)
NM_006302.3(MOGS):c.875C>A (p.Ala292Asp)
NM_006302.3(MOGS):c.876C>A (p.Ala292=) rs531051730
NM_006302.3(MOGS):c.881C>T (p.Pro294Leu) rs184209905
NM_006302.3(MOGS):c.886C>T (p.Arg296Cys)
NM_006302.3(MOGS):c.894C>T (p.Leu298=) rs146748462
NM_006302.3(MOGS):c.900G>T (p.Leu300Phe) rs886745696
NM_006302.3(MOGS):c.925A>G (p.Arg309Gly) rs1558565949
NM_006302.3(MOGS):c.947A>T (p.Gln316Leu) rs1553379896
NM_006302.3(MOGS):c.94G>A (p.Gly32Ser)
NM_006302.3(MOGS):c.992C>T (p.Ser331Phe)

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