ClinVar Miner

List of variants reported as likely benign for COG7 congenital disorder of glycosylation

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ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.*9C>A rs139833665 0.00885
NM_153603.4(COG7):c.534G>A (p.Glu178=) rs80204521 0.00330
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00222
NM_153603.4(COG7):c.810+6del rs150104389 0.00123
NM_153603.4(COG7):c.567T>C (p.Ser189=) rs115543944 0.00101
NM_153603.4(COG7):c.850A>T (p.Ile284Phe) rs115605801 0.00088
NM_153603.4(COG7):c.1718G>A (p.Arg573Gln) rs143639857 0.00076
NM_153603.4(COG7):c.1455C>T (p.Phe485=) rs116153163 0.00068
NM_153603.4(COG7):c.75C>G (p.Ser25=) rs149481813 0.00068
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00065
NM_153603.4(COG7):c.2052G>A (p.Ser684=) rs142744907 0.00060
NM_153603.4(COG7):c.406G>A (p.Ala136Thr) rs149163316 0.00060
NM_153603.4(COG7):c.319-18C>A rs370957274 0.00041
NM_153603.4(COG7):c.835G>A (p.Val279Ile) rs367796897 0.00039
NM_153603.4(COG7):c.405C>T (p.Ser135=) rs143571247 0.00028
NM_153603.4(COG7):c.360T>G (p.Leu120=) rs563111337 0.00027
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr) rs115073082 0.00020
NM_153603.4(COG7):c.1410-17C>A rs373102854 0.00019
NM_153603.4(COG7):c.123G>A (p.Val41=) rs749232479 0.00016
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_153603.4(COG7):c.170-20T>C rs760817103 0.00015
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856 0.00015
NM_153603.4(COG7):c.1227C>T (p.Cys409=) rs753240981 0.00013
NM_153603.4(COG7):c.2013G>A (p.Leu671=) rs370447404 0.00012
NM_153603.4(COG7):c.954C>T (p.Tyr318=) rs752563691 0.00011
NM_153603.4(COG7):c.136C>T (p.Leu46=) rs141138076 0.00010
NM_153603.4(COG7):c.1206G>A (p.Ala402=) rs777152433 0.00008
NM_153603.4(COG7):c.2147-11C>T rs371248336 0.00008
NM_153603.4(COG7):c.882G>A (p.Leu294=) rs368339990 0.00008
NM_153603.4(COG7):c.921C>T (p.Pro307=) rs115610955 0.00008
NM_153603.4(COG7):c.972C>T (p.Phe324=) rs747262700 0.00008
NM_153603.4(COG7):c.1264T>C (p.Leu422=) rs765230344 0.00007
NM_153603.4(COG7):c.1410-17dup rs775141722 0.00007
NM_153603.4(COG7):c.2064C>T (p.Ala688=) rs375870009 0.00007
NM_153603.4(COG7):c.436-9C>G rs146818767 0.00007
NM_153603.4(COG7):c.1293-6C>T rs770617869 0.00005
NM_153603.4(COG7):c.1824C>T (p.Ile608=) rs562948451 0.00005
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00005
NM_153603.4(COG7):c.1888-18C>T rs202123984 0.00005
NM_153603.4(COG7):c.1137+9G>A rs746762111 0.00004
NM_153603.4(COG7):c.1292+12G>A rs549713733 0.00004
NM_153603.4(COG7):c.1981C>T (p.Leu661=) rs368520902 0.00004
NM_153603.4(COG7):c.399G>A (p.Thr133=) rs544517337 0.00004
NM_153603.4(COG7):c.687+16C>T rs373095194 0.00004
NM_153603.4(COG7):c.69C>T (p.Ala23=) rs369785066 0.00004
NM_153603.4(COG7):c.963C>T (p.Thr321=) rs762510375 0.00004
NM_153603.4(COG7):c.1167G>A (p.Gln389=) rs201313774 0.00003
NM_153603.4(COG7):c.1257C>T (p.Cys419=) rs766573880 0.00003
NM_153603.4(COG7):c.1292+17G>A rs770550607 0.00003
NM_153603.4(COG7):c.1389G>A (p.Thr463=) rs760865997 0.00003
NM_153603.4(COG7):c.1409+15G>A rs928852966 0.00003
NM_153603.4(COG7):c.1409+8G>A rs776496345 0.00003
NM_153603.4(COG7):c.1410-6G>C rs369925503 0.00003
NM_153603.4(COG7):c.1494G>A (p.Gly498=) rs747127267 0.00003
NM_153603.4(COG7):c.1629T>C (p.Tyr543=) rs760342154 0.00003
NM_153603.4(COG7):c.1710G>A (p.Ala570=) rs373689142 0.00003
NM_153603.4(COG7):c.1804-13G>A rs759680428 0.00003
NM_153603.4(COG7):c.1872C>T (p.Leu624=) rs753044713 0.00003
NM_153603.4(COG7):c.1914C>T (p.Pro638=) rs111414595 0.00003
NM_153603.4(COG7):c.2131C>T (p.Leu711=) rs751492352 0.00003
NM_153603.4(COG7):c.408C>T (p.Ala136=) rs780107141 0.00003
NM_153603.4(COG7):c.564C>T (p.Ala188=) rs774689841 0.00003
NM_153603.4(COG7):c.687+14C>T rs139853094 0.00003
NM_153603.4(COG7):c.828C>T (p.His276=) rs745431635 0.00003
NM_153603.4(COG7):c.111A>G (p.Ala37=) rs776897797 0.00002
NM_153603.4(COG7):c.120G>A (p.Leu40=) rs770802986 0.00002
NM_153603.4(COG7):c.1815G>A (p.Thr605=) rs115624763 0.00002
NM_153603.4(COG7):c.319-11G>A rs374601516 0.00002
NM_153603.4(COG7):c.319-19C>T rs376351957 0.00002
NM_153603.4(COG7):c.605-17C>T rs376920945 0.00002
NM_153603.4(COG7):c.753C>T (p.Thr251=) rs775575688 0.00002
NM_153603.4(COG7):c.957C>T (p.Asp319=) rs759237979 0.00002
NM_153603.4(COG7):c.1009+14C>T rs762420011 0.00001
NM_153603.4(COG7):c.1009+15C>T rs1014800691 0.00001
NM_153603.4(COG7):c.1010-19C>T rs748110576 0.00001
NM_153603.4(COG7):c.1035G>A (p.Thr345=) rs751396156 0.00001
NM_153603.4(COG7):c.1053G>A (p.Val351=) rs765976652 0.00001
NM_153603.4(COG7):c.1138-4C>A rs369124305 0.00001
NM_153603.4(COG7):c.117C>T (p.Thr39=) rs768806926 0.00001
NM_153603.4(COG7):c.1182C>T (p.Ser394=) rs778585982 0.00001
NM_153603.4(COG7):c.1200T>A (p.Gly400=) rs1162851666 0.00001
NM_153603.4(COG7):c.1281C>T (p.Ser427=) rs1473225475 0.00001
NM_153603.4(COG7):c.1475+11G>A rs777930529 0.00001
NM_153603.4(COG7):c.1524G>A (p.Arg508=) rs767115740 0.00001
NM_153603.4(COG7):c.1623T>A (p.Ala541=) rs1963456657 0.00001
NM_153603.4(COG7):c.1794G>A (p.Ser598=) rs764536173 0.00001
NM_153603.4(COG7):c.1920T>C (p.Asn640=) rs1333336732 0.00001
NM_153603.4(COG7):c.1947C>T (p.Asp649=) rs765301112 0.00001
NM_153603.4(COG7):c.1986A>G (p.Pro662=) rs1275768025 0.00001
NM_153603.4(COG7):c.2002+18C>T rs750617340 0.00001
NM_153603.4(COG7):c.2002+7G>A rs367734393 0.00001
NM_153603.4(COG7):c.2016C>T (p.Pro672=) rs769602942 0.00001
NM_153603.4(COG7):c.2067A>G (p.Thr689=) rs147138599 0.00001
NM_153603.4(COG7):c.2094A>G (p.Leu698=) rs777903380 0.00001
NM_153603.4(COG7):c.2146+8C>T rs764926770 0.00001
NM_153603.4(COG7):c.2147-10G>A rs368816921 0.00001
NM_153603.4(COG7):c.2147-9C>T rs1448513281 0.00001
NM_153603.4(COG7):c.2160C>T (p.Asn720=) rs777423500 0.00001
NM_153603.4(COG7):c.2187G>A (p.Pro729=) rs759094324 0.00001
NM_153603.4(COG7):c.21G>A (p.Leu7=) rs1169890622 0.00001
NM_153603.4(COG7):c.2208C>T (p.Ile736=) rs762124832 0.00001
NM_153603.4(COG7):c.2292C>G (p.Thr764=) rs114918337 0.00001
NM_153603.4(COG7):c.2304G>A (p.Val768=) rs1218532996 0.00001
NM_153603.4(COG7):c.319-14C>T rs756656603 0.00001
NM_153603.4(COG7):c.336C>T (p.Asp112=) rs1389855996 0.00001
NM_153603.4(COG7):c.436-11G>A rs779340924 0.00001
NM_153603.4(COG7):c.604+13T>G rs961952259 0.00001
NM_153603.4(COG7):c.604+20C>T rs767956320 0.00001
NM_153603.4(COG7):c.66G>A (p.Arg22=) rs144356201 0.00001
NM_153603.4(COG7):c.687+11G>A rs749081598 0.00001
NM_153603.4(COG7):c.688-10G>A rs1247585733 0.00001
NM_153603.4(COG7):c.688-18T>G rs1359659760 0.00001
NM_153603.4(COG7):c.768C>T (p.Ala256=) rs183038281 0.00001
NM_153603.4(COG7):c.810+17G>A rs371887493 0.00001
NM_153603.4(COG7):c.879G>A (p.Ser293=) rs771793296 0.00001
NM_153603.4(COG7):c.906G>A (p.Val302=) rs781240758 0.00001
NM_153603.4(COG7):c.90C>T (p.Ser30=) rs1321262415 0.00001
NM_153603.4(COG7):c.999C>T (p.Leu333=) rs767348115 0.00001
NM_153603.4(COG7):c.1002C>T (p.Pro334=)
NM_153603.4(COG7):c.1005C>T (p.His335=) rs532636981
NM_153603.4(COG7):c.1010-13T>C
NM_153603.4(COG7):c.1010-18A>G rs1180578007
NM_153603.4(COG7):c.1062A>G (p.Pro354=) rs1963699729
NM_153603.4(COG7):c.1068A>G (p.Lys356=) rs2506604076
NM_153603.4(COG7):c.1071C>A (p.Pro357=) rs1963699338
NM_153603.4(COG7):c.1137+11A>G rs74012174
NM_153603.4(COG7):c.1138-15G>A rs2142075337
NM_153603.4(COG7):c.1138-17C>T rs2506600775
NM_153603.4(COG7):c.1138-19G>A
NM_153603.4(COG7):c.1138-8C>T rs2506600745
NM_153603.4(COG7):c.1140G>A (p.Glu380=)
NM_153603.4(COG7):c.1149A>G (p.Glu383=) rs2142075318
NM_153603.4(COG7):c.1215C>T (p.Ala405=) rs1225509728
NM_153603.4(COG7):c.1260C>T (p.Gly420=) rs2506600242
NM_153603.4(COG7):c.1293-4G>A rs1484585715
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153603.4(COG7):c.1311C>T (p.Thr437=) rs2506593016
NM_153603.4(COG7):c.1365C>T (p.Asn455=) rs368607137
NM_153603.4(COG7):c.1383T>C (p.Asp461=) rs1188125643
NM_153603.4(COG7):c.1409+7C>G rs373366651
NM_153603.4(COG7):c.1409+7C>T rs373366651
NM_153603.4(COG7):c.1422C>T (p.Thr474=) rs2506584690
NM_153603.4(COG7):c.1443T>C (p.His481=)
NM_153603.4(COG7):c.1475+14G>A
NM_153603.4(COG7):c.1476-16A>G rs749604038
NM_153603.4(COG7):c.1476-7A>G rs1963460413
NM_153603.4(COG7):c.1482G>A (p.Leu494=) rs376358218
NM_153603.4(COG7):c.1503A>G (p.Leu501=) rs200335241
NM_153603.4(COG7):c.1515C>T (p.Cys505=) rs1416139305
NM_153603.4(COG7):c.1518C>T (p.Ser506=)
NM_153603.4(COG7):c.1527C>T (p.Ser509=) rs759004348
NM_153603.4(COG7):c.1560C>T (p.Asp520=) rs1255802125
NM_153603.4(COG7):c.1575C>T (p.Ala525=) rs2506573777
NM_153603.4(COG7):c.1593A>G (p.Glu531=) rs1555493003
NM_153603.4(COG7):c.162C>A (p.Ala54=) rs1400649738
NM_153603.4(COG7):c.1635T>C (p.Ser545=) rs2506573492
NM_153603.4(COG7):c.1662+13del rs2506573311
NM_153603.4(COG7):c.1662+7G>A rs2506573336
NM_153603.4(COG7):c.1662+9C>T rs1218813439
NM_153603.4(COG7):c.1663-15A>G rs750923653
NM_153603.4(COG7):c.1663-17G>A
NM_153603.4(COG7):c.1663-5C>T
NM_153603.4(COG7):c.1665A>G (p.Glu555=)
NM_153603.4(COG7):c.1674A>T (p.Ser558=) rs775910522
NM_153603.4(COG7):c.169+18C>G rs2506685512
NM_153603.4(COG7):c.169+20G>A rs1964286086
NM_153603.4(COG7):c.169+8G>T rs1964287409
NM_153603.4(COG7):c.1746T>C (p.Ala582=) rs2506567631
NM_153603.4(COG7):c.1755C>A (p.Ser585=) rs757896550
NM_153603.4(COG7):c.1776A>G (p.Gln592=) rs2506567532
NM_153603.4(COG7):c.1803+16A>G rs2506567301
NM_153603.4(COG7):c.1804-13G>T
NM_153603.4(COG7):c.1804-14C>T rs768020092
NM_153603.4(COG7):c.1804-5del
NM_153603.4(COG7):c.1887+15G>A
NM_153603.4(COG7):c.1888-13dup rs2506544504
NM_153603.4(COG7):c.1888-15T>C rs1279518119
NM_153603.4(COG7):c.1888-16C>T
NM_153603.4(COG7):c.1890C>A (p.Ile630=) rs199904223
NM_153603.4(COG7):c.1890C>T (p.Ile630=) rs199904223
NM_153603.4(COG7):c.189C>T (p.Leu63=) rs1237076520
NM_153603.4(COG7):c.1914C>G (p.Pro638=) rs111414595
NM_153603.4(COG7):c.1915C>T (p.Leu639=)
NM_153603.4(COG7):c.1929A>G (p.Pro643=)
NM_153603.4(COG7):c.1965A>G (p.Ala655=) rs2506544226
NM_153603.4(COG7):c.19C>T (p.Leu7=) rs2506686406
NM_153603.4(COG7):c.2003-13del rs2506542460
NM_153603.4(COG7):c.2003-14_2003-12del rs1412438092
NM_153603.4(COG7):c.2003-20T>C rs2506542473
NM_153603.4(COG7):c.2003-9T>G rs1963216560
NM_153603.4(COG7):c.2011T>C (p.Leu671=)
NM_153603.4(COG7):c.2088G>A (p.Ala696=) rs148049184
NM_153603.4(COG7):c.2109G>A (p.Leu703=)
NM_153603.4(COG7):c.210C>A (p.Leu70=) rs543986842
NM_153603.4(COG7):c.2146+8C>A rs764926770
NM_153603.4(COG7):c.2146+9C>G rs2506541919
NM_153603.4(COG7):c.2146+9C>T rs2506541919
NM_153603.4(COG7):c.2147-10_2147-9delinsTT rs2506533901
NM_153603.4(COG7):c.2147-13T>C
NM_153603.4(COG7):c.2147-17C>T
NM_153603.4(COG7):c.2241T>C (p.Tyr747=)
NM_153603.4(COG7):c.2304G>C (p.Val768=) rs1218532996
NM_153603.4(COG7):c.252A>G (p.Lys84=)
NM_153603.4(COG7):c.300C>T (p.Asp100=) rs2506668931
NM_153603.4(COG7):c.318+20C>A rs776418564
NM_153603.4(COG7):c.319-16C>T
NM_153603.4(COG7):c.366C>G (p.Ala122=) rs74012178
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153603.4(COG7):c.435+16A>G rs2506666937
NM_153603.4(COG7):c.435+20G>T rs2506666920
NM_153603.4(COG7):c.436-13T>G rs2506661234
NM_153603.4(COG7):c.436-18T>C
NM_153603.4(COG7):c.468T>C (p.Gly156=) rs1273330267
NM_153603.4(COG7):c.538C>T (p.Leu180=) rs2506660878
NM_153603.4(COG7):c.570A>G (p.Pro190=) rs2142094050
NM_153603.4(COG7):c.605-13G>T rs1415853002
NM_153603.4(COG7):c.605-18A>G
NM_153603.4(COG7):c.630G>A (p.Val210=) rs2506642808
NM_153603.4(COG7):c.642T>C (p.Ile214=) rs1362703585
NM_153603.4(COG7):c.684C>T (p.His228=) rs771937528
NM_153603.4(COG7):c.687+17G>A rs780865695
NM_153603.4(COG7):c.687+18A>T rs755480315
NM_153603.4(COG7):c.688-6C>T rs2142087500
NM_153603.4(COG7):c.75C>T (p.Ser25=) rs149481813
NM_153603.4(COG7):c.792A>G (p.Gln264=) rs746479075
NM_153603.4(COG7):c.810+20del rs1389625276
NM_153603.4(COG7):c.811-14C>T rs545654100
NM_153603.4(COG7):c.811-16C>T rs2506619858
NM_153603.4(COG7):c.811-5T>C
NM_153603.4(COG7):c.811-7A>G rs2506619801
NM_153603.4(COG7):c.81G>A (p.Glu27=) rs1235378024
NM_153603.4(COG7):c.822G>A (p.Lys274=) rs2506619765
NM_153603.4(COG7):c.844C>T (p.Leu282=) rs2506619680
NM_153603.4(COG7):c.84G>C (p.Ala28=)
NM_153603.4(COG7):c.879G>T (p.Ser293=)
NM_153603.4(COG7):c.909G>A (p.Glu303=) rs2506619353
NM_153603.4(COG7):c.966C>T (p.Ala322=) rs2506619095
NM_153603.4(COG7):c.984G>A (p.Leu328=) rs1160717553

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