ClinVar Miner

List of variants studied for COG7-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 425
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.*187A>G rs250588 0.31336
NM_153603.4(COG7):c.*47C>T rs250587 0.21141
NM_153603.4(COG7):c.2103T>C (p.Pro701=) rs8057712 0.09257
NM_153603.4(COG7):c.1814C>T (p.Thr605Met) rs16940094 0.07374
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 0.00233
NM_153603.4(COG7):c.*30C>G rs200982091 0.00171
NM_153603.4(COG7):c.1971C>T (p.His657=) rs114458562 0.00156
NM_153603.4(COG7):c.2283C>T (p.Thr761=) rs144814374 0.00150
NM_153603.4(COG7):c.810+6del rs150104389 0.00139
NM_153603.4(COG7):c.1137+11A>C rs74012174 0.00124
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.900C>T (p.Asn300=) rs112611398 0.00091
NM_153603.4(COG7):c.1888-17G>A rs112887835 0.00088
NM_153603.4(COG7):c.1137+8C>T rs75523257 0.00079
NM_153603.4(COG7):c.1113C>T (p.Leu371=) rs114661874 0.00078
NM_153603.4(COG7):c.319-12C>T rs201965984 0.00077
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.523G>T (p.Val175Leu) rs116645835 0.00042
NM_153603.4(COG7):c.170-4A>G rs544015151 0.00032
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00031
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.2192G>A (p.Arg731His) rs149289920 0.00024
NM_153603.4(COG7):c.435+2T>C rs201446992 0.00023
NM_153603.4(COG7):c.86C>T (p.Ala29Val) rs146918812 0.00022
NM_153603.4(COG7):c.1410-17C>A rs373102854 0.00019
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_153603.4(COG7):c.835G>A (p.Val279Ile) rs367796897 0.00015
NM_153603.4(COG7):c.1499A>G (p.Tyr500Cys) rs146603761 0.00014
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.2087C>T (p.Ala696Val) rs376170815 0.00012
NM_153603.4(COG7):c.1205C>T (p.Ala402Val) rs149533590 0.00011
NM_153603.4(COG7):c.525G>A (p.Val175=) rs144180834 0.00011
NM_153603.4(COG7):c.954C>T (p.Tyr318=) rs752563691 0.00011
NM_153603.4(COG7):c.*193G>A rs191591988 0.00010
NM_153603.4(COG7):c.136C>T (p.Leu46=) rs141138076 0.00010
NM_153603.4(COG7):c.1817C>A (p.Ala606Asp) rs768615420 0.00010
NM_153603.4(COG7):c.754G>A (p.Gly252Arg) rs766287686 0.00010
NM_153603.4(COG7):c.1822A>G (p.Ile608Val) rs115813844 0.00009
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.1228G>A (p.Val410Ile) rs199799595 0.00008
NM_153603.4(COG7):c.1973C>G (p.Ala658Gly) rs770639224 0.00008
NM_153603.4(COG7):c.2213C>T (p.Thr738Met) rs376359015 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.241T>G (p.Ser81Ala) rs778408190 0.00007
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_153603.4(COG7):c.1476-3C>T rs551490261 0.00006
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00006
NM_153603.4(COG7):c.1948T>C (p.Ser650Pro) rs761925269 0.00006
NM_153603.4(COG7):c.2297G>A (p.Arg766Gln) rs368136642 0.00006
NM_153603.4(COG7):c.581C>T (p.Ala194Val) rs557121999 0.00006
NM_153603.4(COG7):c.921C>T (p.Pro307=) rs115610955 0.00006
NM_153603.4(COG7):c.955G>A (p.Asp319Asn) rs767025710 0.00006
NM_153603.4(COG7):c.973G>A (p.Ala325Thr) rs116804305 0.00006
NM_153603.4(COG7):c.111A>G (p.Ala37=) rs776897797 0.00005
NM_153603.4(COG7):c.1475+4G>A rs372160869 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.1388C>T (p.Thr463Met) rs764153683 0.00004
NM_153603.4(COG7):c.1529T>C (p.Leu510Pro) rs202221877 0.00004
NM_153603.4(COG7):c.1577A>G (p.Lys526Arg) rs376579040 0.00004
NM_153603.4(COG7):c.1834C>T (p.Leu612Phe) rs756688485 0.00004
NM_153603.4(COG7):c.386A>G (p.Asp129Gly) rs150979217 0.00004
NM_153603.4(COG7):c.687+16C>T rs373095194 0.00004
NM_153603.4(COG7):c.687+7A>C rs199964250 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.119T>A (p.Leu40Gln) rs775575683 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.1803C>T (p.Asp601=) rs1039295104 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.2068A>G (p.Met690Val) rs141629916 0.00003
NM_153603.4(COG7):c.2266C>T (p.Arg756Cys) rs199984825 0.00003
NM_153603.4(COG7):c.2296C>T (p.Arg766Trp) rs112011340 0.00003
NM_153603.4(COG7):c.828C>T (p.His276=) rs745431635 0.00003
NM_153603.4(COG7):c.838A>G (p.Met280Val) rs778121380 0.00003
NM_153603.4(COG7):c.1405A>G (p.Ile469Val) rs751036976 0.00002
NM_153603.4(COG7):c.1445G>A (p.Cys482Tyr) rs376426601 0.00002
NM_153603.4(COG7):c.1482G>T (p.Leu494Phe) rs376358218 0.00002
NM_153603.4(COG7):c.173C>G (p.Thr58Arg) rs866875812 0.00002
NM_153603.4(COG7):c.2267G>A (p.Arg756His) rs765513149 0.00002
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.829G>A (p.Glu277Lys) rs757810496 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.1093A>G (p.Met365Val) rs1186888889 0.00001
NM_153603.4(COG7):c.109G>A (p.Ala37Thr) rs1327432623 0.00001
NM_153603.4(COG7):c.1182C>T (p.Ser394=) rs778585982 0.00001
NM_153603.4(COG7):c.1183G>A (p.Val395Met) rs369307885 0.00001
NM_153603.4(COG7):c.1475+11G>A rs777930529 0.00001
NM_153603.4(COG7):c.1532C>G (p.Ala511Gly) rs766815684 0.00001
NM_153603.4(COG7):c.1657C>A (p.Leu553Ile) rs1013455293 0.00001
NM_153603.4(COG7):c.1703G>A (p.Arg568Gln) rs961127814 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_153603.4(COG7):c.1793C>T (p.Ser598Leu) rs754431741 0.00001
NM_153603.4(COG7):c.1825G>A (p.Gly609Arg) rs369854088 0.00001
NM_153603.4(COG7):c.1970A>G (p.His657Arg) rs767518060 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+4G>C rs750266735 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.2291C>T (p.Thr764Ile) rs1299896596 0.00001
NM_153603.4(COG7):c.2292C>G (p.Thr764=) rs114918337 0.00001
NM_153603.4(COG7):c.2302G>A (p.Val768Met) rs754629845 0.00001
NM_153603.4(COG7):c.319-14C>T rs756656603 0.00001
NM_153603.4(COG7):c.371C>A (p.Ser124Tyr) rs1270268038 0.00001
NM_153603.4(COG7):c.409G>A (p.Asp137Asn) rs758676102 0.00001
NM_153603.4(COG7):c.503C>G (p.Pro168Arg) rs1385977854 0.00001
NM_153603.4(COG7):c.647G>A (p.Arg216Gln) rs766859040 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.721C>A (p.Gln241Lys) rs758862580 0.00001
NM_153603.4(COG7):c.768C>T (p.Ala256=) rs183038281 0.00001
NM_153603.4(COG7):c.994C>G (p.Leu332Val) rs1355304299 0.00001
NC_000016.9:g.(?_23193865)_(23652612_?)del
NM_153603.4(COG7):c.-141C>G rs1964294802
NM_153603.4(COG7):c.1000C>T (p.Pro334Ser)
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.1009C>T (p.His337Tyr)
NM_153603.4(COG7):c.1010-18A>G
NM_153603.4(COG7):c.103G>A (p.Gly35Ser) rs2142101336
NM_153603.4(COG7):c.1046A>G (p.Asp349Gly) rs1036433681
NM_153603.4(COG7):c.1056T>G (p.Tyr352Ter)
NM_153603.4(COG7):c.1058A>G (p.Asp353Gly)
NM_153603.4(COG7):c.1062A>G (p.Pro354=)
NM_153603.4(COG7):c.1064A>T (p.Tyr355Phe)
NM_153603.4(COG7):c.1068A>G (p.Lys356=)
NM_153603.4(COG7):c.1071C>A (p.Pro357=)
NM_153603.4(COG7):c.1089C>T (p.Gly363=) rs539939894
NM_153603.4(COG7):c.108C>A (p.His36Gln)
NM_153603.4(COG7):c.1090G>A (p.Asp364Asn) rs764545607
NM_153603.4(COG7):c.110C>T (p.Ala37Val)
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.1150G>T (p.Val384Leu) rs966821454
NM_153603.4(COG7):c.1177C>T (p.His393Tyr)
NM_153603.4(COG7):c.117C>T (p.Thr39=)
NM_153603.4(COG7):c.11C>G (p.Ser4Cys)
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.1241A>G (p.Asn414Ser)
NM_153603.4(COG7):c.1255dup (p.Cys419fs)
NM_153603.4(COG7):c.1257C>T (p.Cys419=)
NM_153603.4(COG7):c.1259G>C (p.Gly420Ala)
NM_153603.4(COG7):c.1259G>T (p.Gly420Val) rs773279166
NM_153603.4(COG7):c.1260C>T (p.Gly420=)
NM_153603.4(COG7):c.1261C>G (p.Leu421Val) rs1596929657
NM_153603.4(COG7):c.1281C>T (p.Ser427=)
NM_153603.4(COG7):c.1283T>C (p.Leu428Pro)
NM_153603.4(COG7):c.1292+12G>A
NM_153603.4(COG7):c.1293-4G>A
NM_153603.4(COG7):c.1293-5G>A
NM_153603.4(COG7):c.1293G>A (p.Lys431=) rs554871778
NM_153603.4(COG7):c.1293G>T (p.Lys431Asn)
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153603.4(COG7):c.1307T>G (p.Phe436Cys)
NM_153603.4(COG7):c.1311C>T (p.Thr437=)
NM_153603.4(COG7):c.1330C>T (p.Arg444Ter)
NM_153603.4(COG7):c.1365C>T (p.Asn455=)
NM_153603.4(COG7):c.1375del (p.Gln459fs)
NM_153603.4(COG7):c.1383T>C (p.Asp461=)
NM_153603.4(COG7):c.1389G>A (p.Thr463=)
NM_153603.4(COG7):c.1401C>G (p.Asn467Lys)
NM_153603.4(COG7):c.1409+15G>A
NM_153603.4(COG7):c.1409+6C>G
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.1410-2A>T
NM_153603.4(COG7):c.1422C>T (p.Thr474=)
NM_153603.4(COG7):c.1426G>A (p.Gly476Arg)
NM_153603.4(COG7):c.1438C>T (p.Arg480Trp)
NM_153603.4(COG7):c.1448G>A (p.Gly483Glu)
NM_153603.4(COG7):c.1456G>A (p.Glu486Lys)
NM_153603.4(COG7):c.1472A>T (p.Asn491Ile)
NM_153603.4(COG7):c.1474A>T (p.Arg492Trp) rs2142070391
NM_153603.4(COG7):c.1476-16A>G
NM_153603.4(COG7):c.1476-1G>T rs1555493029
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.1498dup (p.Tyr500fs)
NM_153603.4(COG7):c.1503A>G (p.Leu501=) rs200335241
NM_153603.4(COG7):c.1511C>G (p.Ser504Cys) rs1031815684
NM_153603.4(COG7):c.1515C>T (p.Cys505=)
NM_153603.4(COG7):c.1522C>T (p.Arg508Trp)
NM_153603.4(COG7):c.1524G>A (p.Arg508=)
NM_153603.4(COG7):c.1527C>T (p.Ser509=) rs759004348
NM_153603.4(COG7):c.1528C>A (p.Leu510Met)
NM_153603.4(COG7):c.1560C>T (p.Asp520=)
NM_153603.4(COG7):c.1563G>C (p.Lys521Asn)
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.1640T>A (p.Met547Lys)
NM_153603.4(COG7):c.1645A>G (p.Ile549Val)
NM_153603.4(COG7):c.1646T>C (p.Ile549Thr)
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.167A>G (p.Glu56Gly) rs977110347
NM_153603.4(COG7):c.169+18C>G
NM_153603.4(COG7):c.169+18del rs140548275
NM_153603.4(COG7):c.169+20G>A
NM_153603.4(COG7):c.169+4A>C rs1555497568
NM_153603.4(COG7):c.169+8G>T
NM_153603.4(COG7):c.1691T>G (p.Leu564Arg)
NM_153603.4(COG7):c.1699C>T (p.Pro567Ser)
NM_153603.4(COG7):c.170-10_170-9del rs71379679
NM_153603.4(COG7):c.170-7A>G rs1555496968
NM_153603.4(COG7):c.170-9del rs71379679
NM_153603.4(COG7):c.1709C>T (p.Ala570Val)
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.1765C>T (p.Arg589Cys)
NM_153603.4(COG7):c.1776A>G (p.Gln592=)
NM_153603.4(COG7):c.177T>G (p.Ser59Arg)
NM_153603.4(COG7):c.1784T>A (p.Leu595Ter)
NM_153603.4(COG7):c.1794G>A (p.Ser598=)
NM_153603.4(COG7):c.1803+15G>A
NM_153603.4(COG7):c.1803+16A>G
NM_153603.4(COG7):c.1804-14C>A rs768020092
NM_153603.4(COG7):c.1804-14C>T
NM_153603.4(COG7):c.1808G>A (p.Trp603Ter)
NM_153603.4(COG7):c.1815G>A (p.Thr605=)
NM_153603.4(COG7):c.1820G>C (p.Gly607Ala) rs1444115658
NM_153603.4(COG7):c.1824C>T (p.Ile608=)
NM_153603.4(COG7):c.1826G>A (p.Gly609Glu)
NM_153603.4(COG7):c.1872C>T (p.Leu624=)
NM_153603.4(COG7):c.1873G>A (p.Glu625Lys)
NM_153603.4(COG7):c.1873G>C (p.Glu625Gln) rs150027511
NM_153603.4(COG7):c.1888-13dup
NM_153603.4(COG7):c.1888-15T>C
NM_153603.4(COG7):c.1890C>A (p.Ile630=) rs199904223
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.1946A>G (p.Asp649Gly)
NM_153603.4(COG7):c.1947C>T (p.Asp649=) rs765301112
NM_153603.4(COG7):c.1949C>G (p.Ser650Cys) rs1963230461
NM_153603.4(COG7):c.1965A>G (p.Ala655=)
NM_153603.4(COG7):c.1978A>G (p.Lys660Glu)
NM_153603.4(COG7):c.1981C>T (p.Leu661=)
NM_153603.4(COG7):c.19C>T (p.Leu7=)
NM_153603.4(COG7):c.1A>G (p.Met1Val) rs1051352713
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.2003-3C>T
NM_153603.4(COG7):c.2003-9T>G
NM_153603.4(COG7):c.2014C>T (p.Pro672Ser)
NM_153603.4(COG7):c.2032G>T (p.Ala678Ser) rs1596904416
NM_153603.4(COG7):c.2056G>A (p.Ala686Thr)
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.2099T>C (p.Ile700Thr)
NM_153603.4(COG7):c.2106G>C (p.Glu702Asp)
NM_153603.4(COG7):c.210C>A (p.Leu70=)
NM_153603.4(COG7):c.211C>T (p.Arg71Cys)
NM_153603.4(COG7):c.2122G>A (p.Ala708Thr)
NM_153603.4(COG7):c.212G>A (p.Arg71His)
NM_153603.4(COG7):c.2131C>T (p.Leu711=)
NM_153603.4(COG7):c.2146+10del rs748589611
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.2153T>C (p.Leu718Pro)
NM_153603.4(COG7):c.2160C>T (p.Asn720=)
NM_153603.4(COG7):c.2161G>A (p.Val721Met)
NM_153603.4(COG7):c.2185C>T (p.Pro729Ser)
NM_153603.4(COG7):c.2195C>T (p.Thr732Ile)
NM_153603.4(COG7):c.21G>A (p.Leu7=)
NM_153603.4(COG7):c.2208C>T (p.Ile736=) rs762124832
NM_153603.4(COG7):c.2209G>A (p.Val737Met)
NM_153603.4(COG7):c.2217A>G (p.Leu739=) rs778874347
NM_153603.4(COG7):c.2232T>A (p.Pro744=) rs1963141946
NM_153603.4(COG7):c.2243G>A (p.Arg748Lys)
NM_153603.4(COG7):c.2269C>T (p.Arg757Cys)
NM_153603.4(COG7):c.2270G>A (p.Arg757His) rs368733148
NM_153603.4(COG7):c.2281A>G (p.Thr761Ala) rs1963140690
NM_153603.4(COG7):c.2287G>T (p.Ala763Ser)
NM_153603.4(COG7):c.2293A>G (p.Met765Val)
NM_153603.4(COG7):c.229A>G (p.Lys77Glu)
NM_153603.4(COG7):c.2304G>A (p.Val768=)
NM_153603.4(COG7):c.2304G>C (p.Val768=)
NM_153603.4(COG7):c.2T>C (p.Met1Thr) rs1555497604
NM_153603.4(COG7):c.300C>T (p.Asp100=)
NM_153603.4(COG7):c.318+1G>A rs945537370
NM_153603.4(COG7):c.318+20C>A
NM_153603.4(COG7):c.318+5T>C
NM_153603.4(COG7):c.319-19C>T
NM_153603.4(COG7):c.319G>A (p.Val107Met) rs550355383
NM_153603.4(COG7):c.323dup (p.Leu108fs) rs797044712
NM_153603.4(COG7):c.336C>T (p.Asp112=)
NM_153603.4(COG7):c.366C>G (p.Ala122=)
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153603.4(COG7):c.373C>G (p.Leu125Val)
NM_153603.4(COG7):c.37G>T (p.Val13Leu)
NM_153603.4(COG7):c.399G>A (p.Thr133=)
NM_153603.4(COG7):c.408C>T (p.Ala136=)
NM_153603.4(COG7):c.412A>G (p.Ile138Val)
NM_153603.4(COG7):c.422C>T (p.Thr141Ile)
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.436-12G>A rs2142094162
NM_153603.4(COG7):c.436-13T>G
NM_153603.4(COG7):c.436-4C>T rs1964120151
NM_153603.4(COG7):c.436-9C>G
NM_153603.4(COG7):c.438C>G (p.Asp146Glu)
NM_153603.4(COG7):c.443C>G (p.Ala148Gly)
NM_153603.4(COG7):c.455C>T (p.Ala152Val)
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.577G>A (p.Val193Ile) rs1596955037
NM_153603.4(COG7):c.601G>T (p.Val201Leu)
NM_153603.4(COG7):c.604+13T>G
NM_153603.4(COG7):c.604+20C>T
NM_153603.4(COG7):c.604+3G>A
NM_153603.4(COG7):c.605-13G>T rs1415853002
NM_153603.4(COG7):c.605A>G (p.Asp202Gly)
NM_153603.4(COG7):c.614A>C (p.Lys205Thr)
NM_153603.4(COG7):c.628G>A (p.Val210Met) rs202038832
NM_153603.4(COG7):c.630G>A (p.Val210=)
NM_153603.4(COG7):c.642T>C (p.Ile214=) rs1362703585
NM_153603.4(COG7):c.646C>T (p.Arg216Trp) rs751918725
NM_153603.4(COG7):c.664G>A (p.Ala222Thr)
NM_153603.4(COG7):c.668A>G (p.Tyr223Cys) rs377542270
NM_153603.4(COG7):c.668A>T (p.Tyr223Phe)
NM_153603.4(COG7):c.66G>A (p.Arg22=)
NM_153603.4(COG7):c.677A>G (p.Lys226Arg)
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.687+1G>A
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.698del (p.Leu232_Leu233insTer)
NM_153603.4(COG7):c.734C>T (p.Ser245Phe)
NM_153603.4(COG7):c.743G>A (p.Arg248Gln)
NM_153603.4(COG7):c.748C>T (p.Leu250Phe)
NM_153603.4(COG7):c.74C>T (p.Ser25Phe)
NM_153603.4(COG7):c.758T>A (p.Leu253His) rs1413062130
NM_153603.4(COG7):c.75C>T (p.Ser25=)
NM_153603.4(COG7):c.792A>G (p.Gln264=)
NM_153603.4(COG7):c.795C>G (p.Ile265Met)
NM_153603.4(COG7):c.802G>T (p.Ala268Ser)
NM_153603.4(COG7):c.810+16del
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.818A>G (p.Gln273Arg) rs746662903
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.845T>C (p.Leu282Pro)
NM_153603.4(COG7):c.848T>G (p.Leu283Arg)
NM_153603.4(COG7):c.879G>A (p.Ser293=)
NM_153603.4(COG7):c.882G>A (p.Leu294=)
NM_153603.4(COG7):c.901G>A (p.Gly301Ser)
NM_153603.4(COG7):c.904G>C (p.Val302Leu) rs116314856
NM_153603.4(COG7):c.909G>A (p.Glu303=)
NM_153603.4(COG7):c.90C>T (p.Ser30=)
NM_153603.4(COG7):c.922G>A (p.Glu308Lys)
NM_153603.4(COG7):c.938G>A (p.Arg313Lys)
NM_153603.4(COG7):c.951C>A (p.Phe317Leu) rs199739443
NM_153603.4(COG7):c.957C>T (p.Asp319=)
NM_153603.4(COG7):c.964G>A (p.Ala322Thr) rs201584244
NM_153603.4(COG7):c.966C>T (p.Ala322=)
NM_153603.4(COG7):c.972C>G (p.Phe324Leu) rs747262700
NM_153603.4(COG7):c.979G>A (p.Gly327Ser)
NM_153603.4(COG7):c.984G>A (p.Leu328=)
NM_153603.4(COG7):c.995T>G (p.Leu332Arg) rs756142167
NM_153603.4(COG7):c.999C>T (p.Leu333=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.