ClinVar Miner

List of variants reported as likely benign for DK1-congenital disorder of glycosylation by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00104
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00072
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00070
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile) rs146395561 0.00058
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288 0.00045
NM_014908.4(DOLK):c.1512T>C (p.Ala504=) rs183735415 0.00026
NM_014908.4(DOLK):c.159C>G (p.Ala53=) rs199857223 0.00020
NM_014908.4(DOLK):c.633C>T (p.Arg211=) rs147647278 0.00013
NM_014908.4(DOLK):c.975C>T (p.Ser325=) rs149462670 0.00013
NM_014908.4(DOLK):c.1446G>A (p.Ala482=) rs201027607 0.00012
NM_014908.4(DOLK):c.192A>G (p.Leu64=) rs563156233 0.00009
NM_014908.4(DOLK):c.33G>A (p.Gly11=) rs375483505 0.00007
NM_014908.4(DOLK):c.1197A>G (p.Arg399=) rs767133437 0.00006
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg) rs777998210 0.00006
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) rs375939944 0.00005
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=) rs367609050 0.00005
NM_014908.4(DOLK):c.1597C>T (p.Leu533=) rs199672668 0.00005
NM_014908.4(DOLK):c.435C>T (p.Gly145=) rs781307203 0.00005
NM_014908.4(DOLK):c.114A>G (p.Val38=) rs142000757 0.00004
NM_014908.4(DOLK):c.1371C>T (p.Phe457=) rs772013831 0.00004
NM_014908.4(DOLK):c.1005C>T (p.Ile335=) rs370084249 0.00003
NM_014908.4(DOLK):c.1086C>T (p.Ala362=) rs751762161 0.00003
NM_014908.4(DOLK):c.1221A>G (p.Thr407=) rs973710719 0.00003
NM_014908.4(DOLK):c.184C>A (p.Arg62=) rs533764998 0.00003
NM_014908.4(DOLK):c.380T>C (p.Val127Ala) rs201629680 0.00003
NM_014908.4(DOLK):c.549C>T (p.Tyr183=) rs369689792 0.00003
NM_014908.4(DOLK):c.807T>C (p.Gly269=) rs769294980 0.00003
NM_014908.4(DOLK):c.819C>T (p.Pro273=) rs745508730 0.00003
NM_014908.4(DOLK):c.924C>T (p.Ala308=) rs531714647 0.00003
NM_014908.4(DOLK):c.1164A>G (p.Leu388=) rs777991465 0.00002
NM_014908.4(DOLK):c.1326C>T (p.Ala442=) rs762899278 0.00002
NM_014908.4(DOLK):c.1422G>A (p.Glu474=) rs894096556 0.00002
NM_014908.4(DOLK):c.1491G>A (p.Val497=) rs749118990 0.00002
NM_014908.4(DOLK):c.1527C>T (p.Ser509=) rs746460508 0.00002
NM_014908.4(DOLK):c.885C>T (p.Asp295=) rs762558659 0.00002
NM_014908.4(DOLK):c.916C>T (p.Leu306=) rs1290357070 0.00002
NM_014908.4(DOLK):c.1068G>A (p.Arg356=) rs371490482 0.00001
NM_014908.4(DOLK):c.1092T>G (p.Thr364=) rs1280785615 0.00001
NM_014908.4(DOLK):c.1098C>T (p.Cys366=) rs1588262054 0.00001
NM_014908.4(DOLK):c.1107C>T (p.Val369=) rs759148554 0.00001
NM_014908.4(DOLK):c.1110C>T (p.Phe370=) rs1449373134 0.00001
NM_014908.4(DOLK):c.1116C>T (p.Phe372=) rs962516947 0.00001
NM_014908.4(DOLK):c.1140C>T (p.Arg380=) rs1841662033 0.00001
NM_014908.4(DOLK):c.1143C>T (p.Ile381=) rs750733060 0.00001
NM_014908.4(DOLK):c.1167G>C (p.Arg389=) rs1475563721 0.00001
NM_014908.4(DOLK):c.1176G>A (p.Leu392=) rs1229430506 0.00001
NM_014908.4(DOLK):c.129G>C (p.Ser43=) rs372068885 0.00001
NM_014908.4(DOLK):c.1320C>G (p.Pro440=) rs367925997 0.00001
NM_014908.4(DOLK):c.1332C>T (p.Val444=) rs1053317693 0.00001
NM_014908.4(DOLK):c.1434A>G (p.Thr478=) rs536315251 0.00001
NM_014908.4(DOLK):c.1467G>T (p.Leu489=) rs955285603 0.00001
NM_014908.4(DOLK):c.1509T>C (p.Tyr503=) rs1331692893 0.00001
NM_014908.4(DOLK):c.177G>A (p.Lys59=) rs747110969 0.00001
NM_014908.4(DOLK):c.210C>G (p.Val70=) rs750368652 0.00001
NM_014908.4(DOLK):c.24G>A (p.Pro8=) rs746403097 0.00001
NM_014908.4(DOLK):c.288G>A (p.Lys96=) rs771259120 0.00001
NM_014908.4(DOLK):c.390C>T (p.Leu130=) rs774441866 0.00001
NM_014908.4(DOLK):c.453C>T (p.Ile151=) rs1249767230 0.00001
NM_014908.4(DOLK):c.48G>C (p.Leu16=) rs1841690217 0.00001
NM_014908.4(DOLK):c.501C>T (p.Val167=) rs372024402 0.00001
NM_014908.4(DOLK):c.540C>A (p.Ile180=) rs747030086 0.00001
NM_014908.4(DOLK):c.597T>A (p.Gly199=) rs1841676118 0.00001
NM_014908.4(DOLK):c.679C>T (p.Leu227=) rs751806411 0.00001
NM_014908.4(DOLK):c.732G>A (p.Leu244=) rs1443741193 0.00001
NM_014908.4(DOLK):c.738C>T (p.Val246=) rs776924458 0.00001
NM_014908.4(DOLK):c.843G>A (p.Arg281=) rs1430371382 0.00001
NM_014908.4(DOLK):c.888C>G (p.Thr296=) rs1841669182 0.00001
NM_014908.4(DOLK):c.894C>T (p.Ile298=) rs554098531 0.00001
NM_014908.4(DOLK):c.906C>T (p.Ala302=) rs745571625 0.00001
NM_014908.4(DOLK):c.909T>C (p.Tyr303=) rs1244007975 0.00001
NM_014908.4(DOLK):c.90G>A (p.Val30=) rs766960135 0.00001
NM_014908.4(DOLK):c.94C>T (p.Leu32=) rs760999273 0.00001
NM_014908.4(DOLK):c.966G>C (p.Arg322=) rs756216195 0.00001
NM_014908.4(DOLK):c.999C>T (p.Pro333=) rs764117689 0.00001
NM_014908.4(DOLK):c.1059C>T (p.Ile353=) rs1167712176
NM_014908.4(DOLK):c.1065C>T (p.Asp355=) rs371882757
NM_014908.4(DOLK):c.1071A>G (p.Pro357=) rs781428790
NM_014908.4(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.4(DOLK):c.1170C>T (p.Ser390=) rs192515773
NM_014908.4(DOLK):c.1176G>T (p.Leu392=) rs1229430506
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.1359G>A (p.Val453=) rs2131127011
NM_014908.4(DOLK):c.1362C>T (p.Ala454=) rs2131127008
NM_014908.4(DOLK):c.1380C>T (p.Thr460=) rs1372552063
NM_014908.4(DOLK):c.1395C>G (p.Arg465=) rs1045763502
NM_014908.4(DOLK):c.1395C>T (p.Arg465=) rs1045763502
NM_014908.4(DOLK):c.1407C>T (p.Thr469=) rs2492002782
NM_014908.4(DOLK):c.141G>A (p.Val47=) rs1283362484
NM_014908.4(DOLK):c.1482C>T (p.Asp494=) rs1233077806
NM_014908.4(DOLK):c.1536T>G (p.Thr512=) rs758093273
NM_014908.4(DOLK):c.1563A>G (p.Thr521=) rs2492002461
NM_014908.4(DOLK):c.1596C>G (p.Leu532=) rs2492002362
NM_014908.4(DOLK):c.15C>T (p.Cys5=) rs1390332858
NM_014908.4(DOLK):c.1603T>C (p.Leu535=) rs1347114229
NM_014908.4(DOLK):c.207C>G (p.Ala69=) rs145764316
NM_014908.4(DOLK):c.207C>T (p.Ala69=) rs145764316
NM_014908.4(DOLK):c.231A>G (p.Ala77=) rs1035319147
NM_014908.4(DOLK):c.244T>C (p.Leu82=) rs1588262895
NM_014908.4(DOLK):c.261C>T (p.Val87=) rs2492005578
NM_014908.4(DOLK):c.27C>G (p.Ala9=) rs2131129465
NM_014908.4(DOLK):c.294G>A (p.Arg98=) rs876657456
NM_014908.4(DOLK):c.339G>A (p.Val113=) rs2131128893
NM_014908.4(DOLK):c.387G>A (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.387G>C (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.390C>G (p.Leu130=) rs774441866
NM_014908.4(DOLK):c.426C>T (p.Val142=) rs1465958631
NM_014908.4(DOLK):c.45G>T (p.Pro15=) rs2131129425
NM_014908.4(DOLK):c.46C>T (p.Leu16=) rs933503741
NM_014908.4(DOLK):c.495C>A (p.Ile165=) rs149177994
NM_014908.4(DOLK):c.516G>A (p.Leu172=) rs763115646
NM_014908.4(DOLK):c.522C>T (p.Phe174=) rs770077124
NM_014908.4(DOLK):c.534C>T (p.Asn178=) rs1201588280
NM_014908.4(DOLK):c.543G>T (p.Leu181=) rs2492004741
NM_014908.4(DOLK):c.61C>T (p.Leu21=) rs2492005995
NM_014908.4(DOLK):c.693A>G (p.Val231=) rs2131128273
NM_014908.4(DOLK):c.699G>T (p.Gly233=) rs2131128256
NM_014908.4(DOLK):c.708C>T (p.Leu236=) rs1177109504
NM_014908.4(DOLK):c.747C>T (p.Asp249=) rs2131128124
NM_014908.4(DOLK):c.816A>G (p.Leu272=) rs1841671262
NM_014908.4(DOLK):c.834C>A (p.Leu278=) rs758827063
NM_014908.4(DOLK):c.864T>C (p.Leu288=) rs2492004171
NM_014908.4(DOLK):c.915T>C (p.Ser305=) rs2131127826
NM_014908.4(DOLK):c.919C>T (p.Leu307=) rs927774250
NM_014908.4(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.975C>G (p.Ser325=) rs149462670

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