ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00233
NM_153603.4(COG7):c.810+6del rs150104389 0.00139
NM_153603.4(COG7):c.567T>C (p.Ser189=) rs115543944 0.00101
NM_153603.4(COG7):c.850A>T (p.Ile284Phe) rs115605801 0.00094
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.2052G>A (p.Ser684=) rs142744907 0.00060
NM_153603.4(COG7):c.406G>A (p.Ala136Thr) rs149163316 0.00059
NM_153603.4(COG7):c.319-18C>A rs370957274 0.00046
NM_153603.4(COG7):c.405C>T (p.Ser135=) rs143571247 0.00030
NM_153603.4(COG7):c.360T>G (p.Leu120=) rs563111337 0.00027
NM_153603.4(COG7):c.1410-17C>A rs373102854 0.00019
NM_153603.4(COG7):c.170-20T>C rs760817103 0.00014
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr) rs115073082 0.00014
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856 0.00014
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.972C>T (p.Phe324=) rs747262700 0.00009
NM_153603.4(COG7):c.1206G>A (p.Ala402=) rs777152433 0.00008
NM_153603.4(COG7):c.1264T>C (p.Leu422=) rs765230344 0.00007
NM_153603.4(COG7):c.2064C>T (p.Ala688=) rs375870009 0.00007
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00006
NM_153603.4(COG7):c.921C>T (p.Pro307=) rs115610955 0.00006
NM_153603.4(COG7):c.111A>G (p.Ala37=) rs776897797 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.1293-6C>T rs770617869 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.1292+17G>A rs770550607 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.1629T>C (p.Tyr543=) rs760342154 0.00003
NM_153603.4(COG7):c.1804-13G>A rs759680428 0.00003
NM_153603.4(COG7):c.1914C>T (p.Pro638=) rs111414595 0.00003
NM_153603.4(COG7):c.828C>T (p.His276=) rs745431635 0.00003
NM_153603.4(COG7):c.319-11G>A rs374601516 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.906G>A (p.Val302=) rs781240758 0.00002
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.1182C>T (p.Ser394=) rs778585982 0.00001
NM_153603.4(COG7):c.1475+11G>A rs777930529 0.00001
NM_153603.4(COG7):c.1986A>G (p.Pro662=) rs1275768025 0.00001
NM_153603.4(COG7):c.2016C>T (p.Pro672=) rs769602942 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.2187G>A (p.Pro729=) rs759094324 0.00001
NM_153603.4(COG7):c.2292C>G (p.Thr764=) rs114918337 0.00001
NM_153603.4(COG7):c.319-14C>T rs756656603 0.00001
NM_153603.4(COG7):c.687+11G>A rs749081598 0.00001
NM_153603.4(COG7):c.687+14C>T rs139853094 0.00001
NM_153603.4(COG7):c.768C>T (p.Ala256=) rs183038281 0.00001
NM_153603.4(COG7):c.1005C>T (p.His335=) rs532636981
NM_153603.4(COG7):c.1009+14C>T
NM_153603.4(COG7):c.1009+15C>T
NM_153603.4(COG7):c.1010-18A>G
NM_153603.4(COG7):c.1062A>G (p.Pro354=)
NM_153603.4(COG7):c.1068A>G (p.Lys356=)
NM_153603.4(COG7):c.1071C>A (p.Pro357=)
NM_153603.4(COG7):c.1137+11A>G rs74012174
NM_153603.4(COG7):c.1138-15G>A
NM_153603.4(COG7):c.1138-17C>T
NM_153603.4(COG7):c.1138-4C>A
NM_153603.4(COG7):c.1138-8C>T
NM_153603.4(COG7):c.1149A>G (p.Glu383=) rs2142075318
NM_153603.4(COG7):c.117C>T (p.Thr39=)
NM_153603.4(COG7):c.1200T>A (p.Gly400=)
NM_153603.4(COG7):c.120G>A (p.Leu40=)
NM_153603.4(COG7):c.1215C>T (p.Ala405=)
NM_153603.4(COG7):c.1227C>T (p.Cys409=)
NM_153603.4(COG7):c.123G>A (p.Val41=)
NM_153603.4(COG7):c.1257C>T (p.Cys419=)
NM_153603.4(COG7):c.1260C>T (p.Gly420=)
NM_153603.4(COG7):c.1281C>T (p.Ser427=)
NM_153603.4(COG7):c.1292+12G>A
NM_153603.4(COG7):c.1293-4G>A
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153603.4(COG7):c.1311C>T (p.Thr437=)
NM_153603.4(COG7):c.1365C>T (p.Asn455=)
NM_153603.4(COG7):c.1383T>C (p.Asp461=)
NM_153603.4(COG7):c.1389G>A (p.Thr463=)
NM_153603.4(COG7):c.1409+15G>A
NM_153603.4(COG7):c.1409+7C>G rs373366651
NM_153603.4(COG7):c.1409+7C>T rs373366651
NM_153603.4(COG7):c.1410-17dup
NM_153603.4(COG7):c.1422C>T (p.Thr474=)
NM_153603.4(COG7):c.1476-16A>G
NM_153603.4(COG7):c.1476-7A>G
NM_153603.4(COG7):c.1482G>A (p.Leu494=)
NM_153603.4(COG7):c.1494G>A (p.Gly498=)
NM_153603.4(COG7):c.1503A>G (p.Leu501=) rs200335241
NM_153603.4(COG7):c.1515C>T (p.Cys505=)
NM_153603.4(COG7):c.1524G>A (p.Arg508=)
NM_153603.4(COG7):c.1527C>T (p.Ser509=) rs759004348
NM_153603.4(COG7):c.1560C>T (p.Asp520=)
NM_153603.4(COG7):c.1575C>T (p.Ala525=)
NM_153603.4(COG7):c.1593A>G (p.Glu531=) rs1555493003
NM_153603.4(COG7):c.1623T>A (p.Ala541=)
NM_153603.4(COG7):c.162C>A (p.Ala54=)
NM_153603.4(COG7):c.1635T>C (p.Ser545=)
NM_153603.4(COG7):c.1662+13del
NM_153603.4(COG7):c.1662+7G>A
NM_153603.4(COG7):c.1662+9C>T
NM_153603.4(COG7):c.1663-15A>G
NM_153603.4(COG7):c.1674A>T (p.Ser558=)
NM_153603.4(COG7):c.169+18C>G
NM_153603.4(COG7):c.169+20G>A
NM_153603.4(COG7):c.169+8G>T
NM_153603.4(COG7):c.1710G>A (p.Ala570=)
NM_153603.4(COG7):c.1746T>C (p.Ala582=)
NM_153603.4(COG7):c.1755C>A (p.Ser585=)
NM_153603.4(COG7):c.1776A>G (p.Gln592=)
NM_153603.4(COG7):c.1794G>A (p.Ser598=)
NM_153603.4(COG7):c.1803+16A>G
NM_153603.4(COG7):c.1804-14C>T
NM_153603.4(COG7):c.1815G>A (p.Thr605=)
NM_153603.4(COG7):c.1824C>T (p.Ile608=)
NM_153603.4(COG7):c.1888-13dup
NM_153603.4(COG7):c.1888-15T>C
NM_153603.4(COG7):c.1890C>T (p.Ile630=)
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.1920T>C (p.Asn640=)
NM_153603.4(COG7):c.1947C>T (p.Asp649=) rs765301112
NM_153603.4(COG7):c.1965A>G (p.Ala655=)
NM_153603.4(COG7):c.1981C>T (p.Leu661=)
NM_153603.4(COG7):c.19C>T (p.Leu7=)
NM_153603.4(COG7):c.2002+18C>T
NM_153603.4(COG7):c.2002+7G>A
NM_153603.4(COG7):c.2003-13del
NM_153603.4(COG7):c.2003-14_2003-12del
NM_153603.4(COG7):c.2003-20T>C
NM_153603.4(COG7):c.2003-9T>G
NM_153603.4(COG7):c.2067A>G (p.Thr689=)
NM_153603.4(COG7):c.2088G>A (p.Ala696=)
NM_153603.4(COG7):c.2094A>G (p.Leu698=)
NM_153603.4(COG7):c.210C>A (p.Leu70=)
NM_153603.4(COG7):c.2131C>T (p.Leu711=)
NM_153603.4(COG7):c.2146+8C>A
NM_153603.4(COG7):c.2146+9C>G
NM_153603.4(COG7):c.2146+9C>T
NM_153603.4(COG7):c.2147-10_2147-9delinsTT
NM_153603.4(COG7):c.2147-11C>T
NM_153603.4(COG7):c.2147-9C>T
NM_153603.4(COG7):c.2160C>T (p.Asn720=)
NM_153603.4(COG7):c.21G>A (p.Leu7=)
NM_153603.4(COG7):c.2208C>T (p.Ile736=) rs762124832
NM_153603.4(COG7):c.2304G>A (p.Val768=)
NM_153603.4(COG7):c.2304G>C (p.Val768=)
NM_153603.4(COG7):c.300C>T (p.Asp100=)
NM_153603.4(COG7):c.318+20C>A
NM_153603.4(COG7):c.319-19C>T
NM_153603.4(COG7):c.336C>T (p.Asp112=)
NM_153603.4(COG7):c.366C>G (p.Ala122=)
NM_153603.4(COG7):c.399G>A (p.Thr133=)
NM_153603.4(COG7):c.408C>T (p.Ala136=)
NM_153603.4(COG7):c.435+16A>G
NM_153603.4(COG7):c.435+20G>T
NM_153603.4(COG7):c.436-11G>A
NM_153603.4(COG7):c.436-13T>G
NM_153603.4(COG7):c.436-9C>G
NM_153603.4(COG7):c.468T>C (p.Gly156=)
NM_153603.4(COG7):c.538C>T (p.Leu180=)
NM_153603.4(COG7):c.564C>T (p.Ala188=)
NM_153603.4(COG7):c.570A>G (p.Pro190=)
NM_153603.4(COG7):c.604+13T>G
NM_153603.4(COG7):c.604+20C>T
NM_153603.4(COG7):c.605-13G>T rs1415853002
NM_153603.4(COG7):c.630G>A (p.Val210=)
NM_153603.4(COG7):c.642T>C (p.Ile214=) rs1362703585
NM_153603.4(COG7):c.66G>A (p.Arg22=)
NM_153603.4(COG7):c.684C>T (p.His228=)
NM_153603.4(COG7):c.687+17G>A
NM_153603.4(COG7):c.687+18A>T
NM_153603.4(COG7):c.688-10G>A
NM_153603.4(COG7):c.688-18T>G
NM_153603.4(COG7):c.688-6C>T rs2142087500
NM_153603.4(COG7):c.75C>T (p.Ser25=)
NM_153603.4(COG7):c.792A>G (p.Gln264=)
NM_153603.4(COG7):c.810+17G>A
NM_153603.4(COG7):c.810+20del
NM_153603.4(COG7):c.811-14C>T
NM_153603.4(COG7):c.811-16C>T
NM_153603.4(COG7):c.811-7A>G
NM_153603.4(COG7):c.81G>A (p.Glu27=)
NM_153603.4(COG7):c.822G>A (p.Lys274=)
NM_153603.4(COG7):c.844C>T (p.Leu282=)
NM_153603.4(COG7):c.879G>A (p.Ser293=)
NM_153603.4(COG7):c.882G>A (p.Leu294=)
NM_153603.4(COG7):c.909G>A (p.Glu303=)
NM_153603.4(COG7):c.90C>T (p.Ser30=)
NM_153603.4(COG7):c.957C>T (p.Asp319=)
NM_153603.4(COG7):c.966C>T (p.Ala322=)
NM_153603.4(COG7):c.984G>A (p.Leu328=)
NM_153603.4(COG7):c.999C>T (p.Leu333=)

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