ClinVar Miner

List of variants in gene DOLK reported as uncertain significance for Congenital disorder of glycosylation type 1M

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Gene type:
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Total variants: 112
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HGVS dbSNP
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000009.12:g.(?_128945677)_(128947313_?)dup
NC_000009.12:g.128947638C>G
NM_014908.3(DOLK):c.*124A>G rs758102948
NM_014908.3(DOLK):c.-149G>A rs886063515
NM_014908.3(DOLK):c.-194G>T rs886063516
NM_014908.3(DOLK):c.-255C>T rs886063517
NM_014908.3(DOLK):c.-269G>T rs371065378
NM_014908.3(DOLK):c.-386C>A rs576979416
NM_014908.3(DOLK):c.-394A>G rs750538185
NM_014908.3(DOLK):c.-94G>T rs567989779
NM_014908.3(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.3(DOLK):c.1067G>A (p.Arg356Gln) rs199535796
NM_014908.3(DOLK):c.1087G>A (p.Ala363Thr) rs1588262062
NM_014908.3(DOLK):c.1129C>T (p.Arg377Cys) rs868232833
NM_014908.3(DOLK):c.1130G>A (p.Arg377His) rs374317240
NM_014908.3(DOLK):c.1139G>A (p.Arg380His) rs553112177
NM_014908.3(DOLK):c.1165C>T (p.Arg389Trp) rs758129067
NM_014908.3(DOLK):c.1166G>A (p.Arg389Gln) rs201984428
NM_014908.3(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.3(DOLK):c.1257C>G (p.Ile419Met) rs138962748
NM_014908.3(DOLK):c.1262T>C (p.Leu421Pro) rs145125254
NM_014908.3(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829
NM_014908.3(DOLK):c.1333C>A (p.Leu445Met) rs866088033
NM_014908.3(DOLK):c.1357G>C (p.Val453Leu) rs1294479059
NM_014908.3(DOLK):c.1373G>T (p.Gly458Val) rs999023298
NM_014908.3(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) rs144209926
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.1462G>T (p.Ala488Ser) rs1588261659
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.3(DOLK):c.1558A>G (p.Thr520Ala) rs374860681
NM_014908.3(DOLK):c.164A>G (p.Tyr55Cys) rs41305507
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.194A>G (p.Gln65Arg) rs754744977
NM_014908.3(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.3(DOLK):c.210C>G (p.Val70=) rs750368652
NM_014908.3(DOLK):c.219C>G (p.Phe73Leu) rs761385789
NM_014908.3(DOLK):c.288G>C (p.Lys96Asn) rs771259120
NM_014908.3(DOLK):c.292C>T (p.Arg98Trp) rs747555089
NM_014908.3(DOLK):c.313C>A (p.Pro105Thr) rs1454594732
NM_014908.3(DOLK):c.344C>T (p.Ala115Val) rs146804211
NM_014908.3(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.3(DOLK):c.379G>A (p.Val127Met) rs752310792
NM_014908.3(DOLK):c.401G>A (p.Arg134His) rs768596252
NM_014908.3(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.3(DOLK):c.412A>G (p.Thr138Ala) rs933514904
NM_014908.3(DOLK):c.429C>G (p.Ile143Met) rs1261719011
NM_014908.3(DOLK):c.513T>C (p.Leu171=) rs886063514
NM_014908.3(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.3(DOLK):c.560G>T (p.Arg187Leu) rs377658203
NM_014908.3(DOLK):c.572C>A (p.Pro191His) rs767965852
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.700A>G (p.Met234Val) rs139787271
NM_014908.3(DOLK):c.703G>A (p.Val235Ile) rs759019995
NM_014908.3(DOLK):c.767C>T (p.Ser256Phe) rs1186154711
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.863_865delTTC rs773789842
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968
NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) rs371529625
NM_014908.3(DOLK):c.914C>G (p.Ser305Cys) rs766759178
NM_014908.3(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_014908.4(DOLK):c.*20G>A
NM_014908.4(DOLK):c.-211C>T
NM_014908.4(DOLK):c.-22G>A
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
NM_014908.4(DOLK):c.1290T>G (p.Gly430=)
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.4(DOLK):c.18A>G (p.Pro6=)
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala)
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)
NM_014908.4(DOLK):c.621G>T (p.Gln207His)
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786
NM_014908.4(DOLK):c.839G>A (p.Arg280His)
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)

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