ClinVar Miner

List of variants reported as uncertain significance for COG5-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529 0.00086
NM_006348.5(COG5):c.361A>C (p.Ile121Leu) rs138976539 0.00042
NM_006348.5(COG5):c.1184G>A (p.Arg395His) rs142357535 0.00037
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys) rs149517266 0.00036
NM_006348.5(COG5):c.247C>T (p.His83Tyr) rs149488863 0.00036
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu) rs140418178 0.00034
NM_006348.5(COG5):c.920T>C (p.Met307Thr) rs372882041 0.00029
NM_006348.5(COG5):c.1789C>T (p.Leu597Phe) rs148575627 0.00017
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys) rs143592207 0.00016
NM_006348.5(COG5):c.67G>C (p.Ala23Pro) rs146391348 0.00016
NM_006348.5(COG5):c.524G>A (p.Ser175Asn) rs770046536 0.00013
NM_006348.5(COG5):c.2299G>T (p.Ala767Ser) rs184760203 0.00012
NM_006348.5(COG5):c.1586A>G (p.Gln529Arg) rs377326343 0.00010
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys) rs754614179 0.00008
NM_006348.5(COG5):c.1476T>C (p.Ser492=) rs201478249 0.00007
NM_006348.5(COG5):c.1829C>A (p.Thr610Asn) rs760831906 0.00007
NM_006348.5(COG5):c.586A>G (p.Asn196Asp) rs201841638 0.00007
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro) rs34100214 0.00006
NM_006348.5(COG5):c.314C>T (p.Thr105Met) rs755030238 0.00006
NM_006348.5(COG5):c.2451G>A (p.Met817Ile) rs760038268 0.00005
NM_006348.5(COG5):c.538+5del rs761862013 0.00005
NM_006348.5(COG5):c.796A>T (p.Ile266Leu) rs768338390 0.00005
NC_000007.14:g.107563953A>G rs758429632 0.00004
NM_006348.5(COG5):c.1198A>G (p.Ser400Gly) rs372144586 0.00004
NM_006348.5(COG5):c.1238C>T (p.Thr413Ile) rs147389453 0.00004
NM_006348.5(COG5):c.1303C>T (p.Pro435Ser) rs759734221 0.00004
NM_006348.5(COG5):c.1343A>G (p.Gln448Arg) rs762315475 0.00004
NM_006348.5(COG5):c.1415C>T (p.Pro472Leu) rs143591444 0.00004
NM_006348.5(COG5):c.1842A>C (p.Glu614Asp) rs772330572 0.00004
NM_006348.5(COG5):c.2272G>A (p.Ala758Thr) rs370066143 0.00004
NM_006348.5(COG5):c.907A>G (p.Met303Val) rs1001137054 0.00004
NM_006348.5(COG5):c.948+5A>G rs776326738 0.00004
NM_006348.5(COG5):c.1112C>T (p.Ser371Leu) rs776804916 0.00003
NM_006348.5(COG5):c.1183C>T (p.Arg395Cys) rs376754542 0.00003
NM_006348.5(COG5):c.184G>A (p.Ala62Thr) rs375537266 0.00003
NM_006348.5(COG5):c.2092A>G (p.Met698Val) rs749445329 0.00003
NM_006348.5(COG5):c.614G>A (p.Arg205Gln) rs368331483 0.00003
NM_006348.5(COG5):c.733A>G (p.Ile245Val) rs533220570 0.00003
NM_006348.5(COG5):c.-15C>T rs772850481 0.00002
NM_006348.5(COG5):c.1026+4T>C rs748372051 0.00002
NM_006348.5(COG5):c.1096A>G (p.Met366Val) rs768962367 0.00002
NM_006348.5(COG5):c.1177T>C (p.Trp393Arg) rs780609950 0.00002
NM_006348.5(COG5):c.154A>G (p.Ile52Val) rs776828196 0.00002
NM_006348.5(COG5):c.1766T>C (p.Met589Thr) rs777200785 0.00002
NM_006348.5(COG5):c.1882G>A (p.Val628Ile) rs541139830 0.00002
NM_006348.5(COG5):c.2021T>C (p.Ile674Thr) rs933746900 0.00002
NM_006348.5(COG5):c.2036T>C (p.Leu679Pro) rs975245291 0.00002
NM_006348.5(COG5):c.2048T>C (p.Leu683Pro) rs558759709 0.00002
NM_006348.5(COG5):c.2123G>A (p.Arg708Gln) rs772812050 0.00002
NM_006348.5(COG5):c.2261C>T (p.Thr754Met) rs760602600 0.00002
NM_006348.5(COG5):c.2269C>T (p.Pro757Ser) rs148259908 0.00002
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys) rs767217808 0.00002
NM_006348.5(COG5):c.2327A>G (p.Gln776Arg) rs149616917 0.00002
NM_006348.5(COG5):c.2479G>C (p.Ala827Pro) rs747809652 0.00002
NM_006348.5(COG5):c.551A>G (p.Gln184Arg) rs753818358 0.00002
NM_006348.5(COG5):c.59C>T (p.Ala20Val) rs368239973 0.00002
NM_006348.5(COG5):c.679C>A (p.Gln227Lys) rs969075609 0.00002
NM_006348.5(COG5):c.961C>A (p.Gln321Lys) rs370028534 0.00002
NC_000007.14:g.107563941G>A rs1445399193 0.00001
NC_000007.14:g.107563947G>A rs765560840 0.00001
NM_006348.5(COG5):c.-3A>G rs779868604 0.00001
NM_006348.5(COG5):c.1049A>G (p.Tyr350Cys) rs1388958454 0.00001
NM_006348.5(COG5):c.1073A>G (p.Gln358Arg) rs766011355 0.00001
NM_006348.5(COG5):c.116A>G (p.Asn39Ser) rs141581564 0.00001
NM_006348.5(COG5):c.1240G>A (p.Asp414Asn) rs368514277 0.00001
NM_006348.5(COG5):c.1250T>G (p.Val417Gly) rs773761601 0.00001
NM_006348.5(COG5):c.1314-3C>T rs1432561660 0.00001
NM_006348.5(COG5):c.1410T>A (p.Phe470Leu) rs769542319 0.00001
NM_006348.5(COG5):c.1424G>A (p.Arg475His) rs1197475508 0.00001
NM_006348.5(COG5):c.1432C>T (p.Pro478Ser) rs1279772707 0.00001
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly) rs1037950511 0.00001
NM_006348.5(COG5):c.1597A>G (p.Ser533Gly) rs775375718 0.00001
NM_006348.5(COG5):c.1607T>C (p.Ile536Thr) rs1278178957 0.00001
NM_006348.5(COG5):c.1659G>T (p.Leu553Phe) rs1006612410 0.00001
NM_006348.5(COG5):c.17G>A (p.Gly6Asp) rs919495599 0.00001
NM_006348.5(COG5):c.1832T>G (p.Met611Arg) rs144172205 0.00001
NM_006348.5(COG5):c.1838A>G (p.Gln613Arg) rs1186643281 0.00001
NM_006348.5(COG5):c.206G>A (p.Ser69Asn) rs372287766 0.00001
NM_006348.5(COG5):c.2084T>G (p.Phe695Cys) rs199526957 0.00001
NM_006348.5(COG5):c.2149C>T (p.Arg717Trp) rs939793014 0.00001
NM_006348.5(COG5):c.2150G>A (p.Arg717Gln) rs373856634 0.00001
NM_006348.5(COG5):c.2212G>T (p.Ala738Ser) rs756618451 0.00001
NM_006348.5(COG5):c.2318G>A (p.Arg773His) rs1221934619 0.00001
NM_006348.5(COG5):c.2449A>G (p.Met817Val) rs1005257968 0.00001
NM_006348.5(COG5):c.2470G>T (p.Ala824Ser) rs1798514537 0.00001
NM_006348.5(COG5):c.2477C>T (p.Ser826Phe) rs1798513137 0.00001
NM_006348.5(COG5):c.364G>A (p.Val122Ile) rs759063795 0.00001
NM_006348.5(COG5):c.37C>T (p.Leu13Phe) rs1429157275 0.00001
NM_006348.5(COG5):c.458A>G (p.Asn153Ser) rs1800845136 0.00001
NM_006348.5(COG5):c.640C>A (p.Arg214Ser) rs144485187 0.00001
NM_006348.5(COG5):c.707A>G (p.Tyr236Cys) rs777624889 0.00001
NM_006348.5(COG5):c.70A>G (p.Thr24Ala) rs957736001 0.00001
NM_006348.5(COG5):c.784A>T (p.Ser262Cys) rs770563311 0.00001
NM_006348.5(COG5):c.785G>A (p.Ser262Asn) rs1814282526 0.00001
NM_006348.5(COG5):c.818C>G (p.Ser273Cys) rs1202800081 0.00001
NM_006348.5(COG5):c.839G>T (p.Gly280Val) rs138072101 0.00001
NM_006348.5(COG5):c.858G>A (p.Met286Ile) rs1325740175 0.00001
NM_006348.5(COG5):c.880G>T (p.Ala294Ser) rs745832481 0.00001
NM_006348.5(COG5):c.887G>A (p.Arg296His) rs576854159 0.00001
NM_006348.5(COG5):c.940T>C (p.Cys314Arg) rs764832638 0.00001
NM_006348.5(COG5):c.976A>G (p.Lys326Glu) rs988845762 0.00001
NM_181581.3(DUS4L):c.-334C>T rs1010594801 0.00001
NC_000007.13:g.(?_106876875)_(107013225_?)dup
NC_000007.13:g.(?_106921725)_(106964986_?)dup
NC_000007.13:g.(?_106921725)_(107167822_?)del
NC_000007.14:g.107563935G>A rs1245430599
NC_000007.14:g.107563946G>A rs934471777
NC_000007.14:g.107563946G>T rs934471777
NC_000007.14:g.107563960del rs1453226093
NM_006348.3(COG5):c.59_61CTG[2] (p.Ala22del)
NM_006348.3(COG5):c.62C>G (p.Ala21Gly)
NM_006348.3(COG5):c.69C>A (p.Asp23Glu)
NM_006348.5(COG5):c.-12G>A rs1363800282
NM_006348.5(COG5):c.-1C>G
NM_006348.5(COG5):c.-20T>A rs762377555
NM_006348.5(COG5):c.-2A>C
NM_006348.5(COG5):c.-8C>T
NM_006348.5(COG5):c.-9C>T
NM_006348.5(COG5):c.1021G>A (p.Val341Ile)
NM_006348.5(COG5):c.1027G>T (p.Asp343Tyr) rs1240588560
NM_006348.5(COG5):c.1055T>C (p.Phe352Ser) rs2129027601
NM_006348.5(COG5):c.1069A>G (p.Thr357Ala) rs1809589810
NM_006348.5(COG5):c.1072C>G (p.Gln358Glu)
NM_006348.5(COG5):c.1078C>G (p.Leu360Val) rs762031095
NM_006348.5(COG5):c.1078C>T (p.Leu360Phe) rs762031095
NM_006348.5(COG5):c.107A>G (p.Asp36Gly) rs1385437505
NM_006348.5(COG5):c.1097T>C (p.Met366Thr)
NM_006348.5(COG5):c.1115_1123del (p.Met372_Leu374del)
NM_006348.5(COG5):c.1126C>G (p.Gln376Glu) rs775852402
NM_006348.5(COG5):c.115A>G (p.Asn39Asp)
NM_006348.5(COG5):c.1165T>C (p.Tyr389His)
NM_006348.5(COG5):c.118G>A (p.Glu40Lys) rs781059953
NM_006348.5(COG5):c.1195T>C (p.Tyr399His)
NM_006348.5(COG5):c.1196A>G (p.Tyr399Cys)
NM_006348.5(COG5):c.1225G>A (p.Ala409Thr)
NM_006348.5(COG5):c.1237A>G (p.Thr413Ala)
NM_006348.5(COG5):c.1264A>G (p.Met422Val)
NM_006348.5(COG5):c.1266G>C (p.Met422Ile) rs778784886
NM_006348.5(COG5):c.1294C>T (p.Pro432Ser)
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn) rs200021706
NM_006348.5(COG5):c.1304C>G (p.Pro435Arg)
NM_006348.5(COG5):c.1306G>A (p.Asp436Asn)
NM_006348.5(COG5):c.1310A>T (p.Tyr437Phe) rs2116915449
NM_006348.5(COG5):c.1313+4T>C
NM_006348.5(COG5):c.1340T>G (p.Leu447Arg)
NM_006348.5(COG5):c.137C>T (p.Thr46Ile) rs542344548
NM_006348.5(COG5):c.1412C>T (p.Pro471Leu) rs2116813555
NM_006348.5(COG5):c.1417G>A (p.Gly473Ser)
NM_006348.5(COG5):c.1421G>T (p.Gly474Val)
NM_006348.5(COG5):c.1430C>G (p.Pro477Arg) rs1805365099
NM_006348.5(COG5):c.1450G>C (p.Asp484His)
NM_006348.5(COG5):c.1471G>A (p.Ala491Thr)
NM_006348.5(COG5):c.1475+3A>G
NM_006348.5(COG5):c.1511C>T (p.Thr504Ile)
NM_006348.5(COG5):c.1534G>A (p.Ala512Thr)
NM_006348.5(COG5):c.1539G>C (p.Lys513Asn) rs1805147503
NM_006348.5(COG5):c.1541C>T (p.Thr514Ile) rs2116796211
NM_006348.5(COG5):c.1552T>C (p.Tyr518His) rs776229547
NM_006348.5(COG5):c.1556G>C (p.Ser519Thr) rs2116796050
NM_006348.5(COG5):c.1558G>A (p.Val520Ile) rs2116795993
NM_006348.5(COG5):c.1561A>G (p.Lys521Glu) rs768443334
NM_006348.5(COG5):c.1576-3C>T
NM_006348.5(COG5):c.1588G>A (p.Gly530Arg)
NM_006348.5(COG5):c.1602G>C (p.Gln534His) rs759544719
NM_006348.5(COG5):c.1603G>T (p.Val535Leu) rs2116623874
NM_006348.5(COG5):c.1640T>C (p.Val547Ala)
NM_006348.5(COG5):c.1642G>A (p.Ala548Thr) rs1219441965
NM_006348.5(COG5):c.1663A>G (p.Lys555Glu) rs145616048
NM_006348.5(COG5):c.166G>A (p.Val56Ile)
NM_006348.5(COG5):c.1671C>A (p.His557Gln)
NM_006348.5(COG5):c.1673A>G (p.Gln558Arg)
NM_006348.5(COG5):c.1674A>C (p.Gln558His)
NM_006348.5(COG5):c.1686+3A>G
NM_006348.5(COG5):c.1686G>A (p.Lys562=)
NM_006348.5(COG5):c.1694C>T (p.Ser565Phe)
NM_006348.5(COG5):c.1695C>T (p.Ser565=)
NM_006348.5(COG5):c.1724A>T (p.Glu575Val)
NM_006348.5(COG5):c.1736T>C (p.Ile579Thr) rs753306021
NM_006348.5(COG5):c.1744C>G (p.Leu582Val)
NM_006348.5(COG5):c.1748A>G (p.Lys583Arg) rs1198193243
NM_006348.5(COG5):c.1766T>A (p.Met589Lys) rs777200785
NM_006348.5(COG5):c.1783C>A (p.Pro595Thr) rs1802220416
NM_006348.5(COG5):c.1783C>G (p.Pro595Ala) rs1802220416
NM_006348.5(COG5):c.178C>A (p.Gln60Lys)
NM_006348.5(COG5):c.1792A>C (p.Thr598Pro)
NM_006348.5(COG5):c.1808C>T (p.Ala603Val)
NM_006348.5(COG5):c.1831A>G (p.Met611Val)
NM_006348.5(COG5):c.1841A>G (p.Glu614Gly)
NM_006348.5(COG5):c.1902_1904delinsCTT (p.Met634_Lys635delinsIleLeu)
NM_006348.5(COG5):c.1916G>A (p.Gly639Asp) rs757204685
NM_006348.5(COG5):c.1916G>T (p.Gly639Val)
NM_006348.5(COG5):c.193G>T (p.Ala65Ser)
NM_006348.5(COG5):c.1952A>C (p.His651Pro)
NM_006348.5(COG5):c.1993A>G (p.Ile665Val) rs1262175069
NM_006348.5(COG5):c.1A>G (p.Met1Val) rs1804241289
NM_006348.5(COG5):c.2038A>G (p.Ile680Val)
NM_006348.5(COG5):c.2038A>T (p.Ile680Leu) rs777624204
NM_006348.5(COG5):c.2056G>C (p.Gly686Arg) rs2116455775
NM_006348.5(COG5):c.2067G>T (p.Met689Ile) rs2116455716
NM_006348.5(COG5):c.2078C>T (p.Ala693Val) rs751843896
NM_006348.5(COG5):c.2089C>G (p.Gln697Glu) rs1031677638
NM_006348.5(COG5):c.2091+4_2091+11del
NM_006348.5(COG5):c.2091+6T>C
NM_006348.5(COG5):c.2101G>A (p.Ala701Thr) rs2116403733
NM_006348.5(COG5):c.2104G>C (p.Val702Leu) rs398124222
NM_006348.5(COG5):c.2129_2131del (p.Ser710_Asp711delinsTyr) rs2116403276
NM_006348.5(COG5):c.2152A>T (p.Met718Leu) rs113517604
NM_006348.5(COG5):c.2168G>A (p.Arg723Lys)
NM_006348.5(COG5):c.2186C>G (p.Ala729Gly)
NM_006348.5(COG5):c.2194C>T (p.His732Tyr) rs746743097
NM_006348.5(COG5):c.2204G>T (p.Ser735Ile) rs150808289
NM_006348.5(COG5):c.2215T>A (p.Leu739Met) rs374796275
NM_006348.5(COG5):c.2219G>A (p.Gly740Glu)
NM_006348.5(COG5):c.2221G>C (p.Asp741His) rs114023726
NM_006348.5(COG5):c.2295G>T (p.Gln765His) rs1212652543
NM_006348.5(COG5):c.2296-6C>G
NM_006348.5(COG5):c.2296-7C>G rs778380856
NM_006348.5(COG5):c.2304G>C (p.Glu768Asp)
NM_006348.5(COG5):c.2309C>T (p.Ser770Phe)
NM_006348.5(COG5):c.2335G>A (p.Asp779Asn)
NM_006348.5(COG5):c.2347T>C (p.Ser783Pro) rs773449359
NM_006348.5(COG5):c.2352A>T (p.Glu784Asp) rs2116193691
NM_006348.5(COG5):c.2360G>T (p.Arg787Met) rs761946629
NM_006348.5(COG5):c.2375G>A (p.Arg792Lys) rs2116193173
NM_006348.5(COG5):c.2390C>G (p.Ala797Gly) rs1228532042
NM_006348.5(COG5):c.2390C>T (p.Ala797Val) rs1228532042
NM_006348.5(COG5):c.2399A>G (p.Gln800Arg) rs762082725
NM_006348.5(COG5):c.2415A>T (p.Arg805Ser)
NM_006348.5(COG5):c.244A>G (p.Arg82Gly)
NM_006348.5(COG5):c.2452G>C (p.Val818Leu) rs2116084715
NM_006348.5(COG5):c.2456A>G (p.Gln819Arg) rs34100214
NM_006348.5(COG5):c.2473A>C (p.Met825Leu) rs2116084157
NM_006348.5(COG5):c.2473_2474del (p.Met825fs) rs777167502
NM_006348.5(COG5):c.2482C>T (p.Leu828Phe)
NM_006348.5(COG5):c.2483T>G (p.Leu828Arg)
NM_006348.5(COG5):c.292+6_292+14del
NM_006348.5(COG5):c.29T>A (p.Val10Glu)
NM_006348.5(COG5):c.29T>C (p.Val10Ala)
NM_006348.5(COG5):c.2T>C (p.Met1Thr) rs375702393
NM_006348.5(COG5):c.320T>C (p.Ile107Thr)
NM_006348.5(COG5):c.326C>T (p.Ala109Val) rs758820507
NM_006348.5(COG5):c.332A>T (p.Gln111Leu) rs1437532814
NM_006348.5(COG5):c.347+6G>A
NM_006348.5(COG5):c.347G>C (p.Arg116Thr) rs1802613005
NM_006348.5(COG5):c.417+4G>C
NM_006348.5(COG5):c.434T>G (p.Leu145Arg)
NM_006348.5(COG5):c.436C>T (p.Arg146Trp)
NM_006348.5(COG5):c.437G>A (p.Arg146Gln)
NM_006348.5(COG5):c.437G>C (p.Arg146Pro)
NM_006348.5(COG5):c.43G>C (p.Ala15Pro)
NM_006348.5(COG5):c.442A>G (p.Ile148Val)
NM_006348.5(COG5):c.44C>G (p.Ala15Gly) rs1804227263
NM_006348.5(COG5):c.452_453delinsAA (p.Ile151Lys) rs2129156929
NM_006348.5(COG5):c.47G>A (p.Arg16Gln) rs781711867
NM_006348.5(COG5):c.482A>G (p.Gln161Arg) rs141580311
NM_006348.5(COG5):c.538+5G>T
NM_006348.5(COG5):c.542A>G (p.Tyr181Cys)
NM_006348.5(COG5):c.548C>G (p.Ser183Cys)
NM_006348.5(COG5):c.556A>G (p.Ile186Val)
NM_006348.5(COG5):c.557T>C (p.Ile186Thr) rs2129067260
NM_006348.5(COG5):c.563T>C (p.Leu188Pro) rs1563018594
NM_006348.5(COG5):c.571A>G (p.Ile191Val)
NM_006348.5(COG5):c.575A>G (p.Glu192Gly)
NM_006348.5(COG5):c.590A>T (p.Asp197Val)
NM_006348.5(COG5):c.591T>A (p.Asp197Glu)
NM_006348.5(COG5):c.5A>G (p.Glu2Gly)
NM_006348.5(COG5):c.610G>A (p.Ala204Thr)
NM_006348.5(COG5):c.628A>T (p.Asn210Tyr) rs2129067191
NM_006348.5(COG5):c.638A>G (p.Lys213Arg)
NM_006348.5(COG5):c.640C>T (p.Arg214Cys) rs144485187
NM_006348.5(COG5):c.646C>G (p.Leu216Val) rs1584789628
NM_006348.5(COG5):c.656G>T (p.Gly219Val) rs760642504
NM_006348.5(COG5):c.669+5_669+7del rs757035635
NM_006348.5(COG5):c.676A>G (p.Thr226Ala)
NM_006348.5(COG5):c.682G>C (p.Val228Leu)
NM_006348.5(COG5):c.686G>A (p.Gly229Glu)
NM_006348.5(COG5):c.68C>G (p.Ala23Gly) rs2129184361
NM_006348.5(COG5):c.767T>C (p.Leu256Ser)
NM_006348.5(COG5):c.776A>G (p.Asn259Ser) rs2129050118
NM_006348.5(COG5):c.787G>A (p.Ala263Thr)
NM_006348.5(COG5):c.802G>T (p.Val268Phe) rs2129050098
NM_006348.5(COG5):c.826G>A (p.Ala276Thr) rs2129050090
NM_006348.5(COG5):c.827C>G (p.Ala276Gly) rs2129050089
NM_006348.5(COG5):c.82C>A (p.Leu28Ile)
NM_006348.5(COG5):c.835+4T>C rs915388047
NM_006348.5(COG5):c.835+6G>A rs2129050084
NM_006348.5(COG5):c.839G>A (p.Gly280Glu) rs138072101
NM_006348.5(COG5):c.851C>G (p.Ser284Cys)
NM_006348.5(COG5):c.856_857delinsTG (p.Met286Trp) rs2129046287
NM_006348.5(COG5):c.878C>T (p.Ala293Val) rs2129046276
NM_006348.5(COG5):c.93C>T (p.Asp31=)
NM_006348.5(COG5):c.941G>T (p.Cys314Phe)
NM_006348.5(COG5):c.955_963del (p.His319_Gln321del) rs2129046150
NM_006348.5(COG5):c.958C>A (p.Leu320Ile) rs2129046155
NM_006348.5(COG5):c.977A>G (p.Lys326Arg) rs1214496373
NM_181581.3(DUS4L):c.-332A>C
NM_181581.3(DUS4L):c.-347C>T

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