ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 387
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_181581.3(DUS4L):c.-110-94C>A rs145603444 0.00625
NM_006348.5(COG5):c.*437A>G rs193127052 0.00506
NM_012257.4(HBP1):c.*448C>T rs147954001 0.00452
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_006348.5(COG5):c.1262A>G (p.His421Arg) rs35393416 0.00266
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972 0.00201
NM_012257.4(HBP1):c.*343C>T rs534075932 0.00184
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861 0.00172
NM_006348.5(COG5):c.*157T>C rs188638963 0.00160
NM_012257.4(HBP1):c.*617C>A rs183289135 0.00155
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_006348.5(COG5):c.2124A>G (p.Arg708=) rs148020994 0.00135
NM_006348.5(COG5):c.1160G>A (p.Arg387His) rs35258567 0.00106
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529 0.00086
NM_006348.5(COG5):c.*550A>G rs538476088 0.00070
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937 0.00067
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910 0.00056
NM_006348.5(COG5):c.361A>C (p.Ile121Leu) rs138976539 0.00042
NM_006348.5(COG5):c.2271C>T (p.Pro757=) rs145648013 0.00039
NM_006348.5(COG5):c.1750-14T>G rs199592702 0.00038
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.264A>G (p.Ala88=) rs113660545 0.00036
NM_006348.5(COG5):c.15C>G (p.Gly5=) rs202123650 0.00035
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu) rs140418178 0.00034
NM_012257.4(HBP1):c.*636C>T rs551727433 0.00034
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242 0.00029
NM_006348.5(COG5):c.920T>C (p.Met307Thr) rs372882041 0.00029
NM_012257.4(HBP1):c.*745T>C rs190095596 0.00028
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) rs141942249 0.00027
NM_012257.4(HBP1):c.*365T>C rs773755170 0.00022
NM_006348.5(COG5):c.*865C>G rs540645627 0.00020
NM_006348.5(COG5):c.1725G>A (p.Glu575=) rs145128460 0.00017
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.454T>C (p.Leu152=) rs200107630 0.00016
NM_006348.5(COG5):c.67G>C (p.Ala23Pro) rs146391348 0.00016
NM_181581.3(DUS4L):c.-323G>A rs555908807 0.00016
NM_006348.5(COG5):c.1686+7A>G rs373280339 0.00013
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.*606A>G rs772464238 0.00009
NM_006348.5(COG5):c.*986G>A rs886061870 0.00009
NM_006348.5(COG5):c.292+14A>G rs374007477 0.00009
NM_006348.5(COG5):c.795C>T (p.Asp265=) rs372226278 0.00009
NM_012257.4(HBP1):c.*842A>G rs530897270 0.00009
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys) rs754614179 0.00008
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) rs376958885 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.2168+9G>A rs746107488 0.00006
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.*617A>C rs894757078 0.00003
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.1853+8C>A rs774900756 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.*162T>C rs1000375620 0.00002
NM_006348.5(COG5):c.*247T>C rs886061872 0.00002
NM_006348.5(COG5):c.*409T>C rs912460078 0.00002
NM_006348.5(COG5):c.*634T>C rs527645957 0.00002
NM_006348.5(COG5):c.*867A>G rs1003504113 0.00002
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.1906G>A (p.Glu636Lys) rs771961452 0.00002
NM_006348.5(COG5):c.2009T>C (p.Val670Ala) rs773647928 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.268G>A (p.Ala90Thr) rs773864216 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.*622C>T rs548613467 0.00001
NM_006348.5(COG5):c.*89A>G rs1798504316 0.00001
NM_006348.5(COG5):c.*8A>C rs750444305 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.185C>T (p.Ala62Val) rs886061875 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.538+10T>G rs769195866 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.836-9C>T rs757452204 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.94+3A>G rs374535796 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_012257.4(HBP1):c.*1088C>T rs886061869 0.00001
NM_012257.4(HBP1):c.*601A>G rs886061867 0.00001
NM_181581.3(DUS4L):c.-111+147G>C rs886061881 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.*165C>T rs1798496835
NM_006348.5(COG5):c.*220G>A rs1281689688
NM_006348.5(COG5):c.*237T>C rs577491628
NM_006348.5(COG5):c.*306C>A rs1798486114
NM_006348.5(COG5):c.*468C>A rs886061871
NM_006348.5(COG5):c.*498T>G rs1798468428
NM_006348.5(COG5):c.*52G>A rs937117794
NM_006348.5(COG5):c.*589G>A rs1422526244
NM_006348.5(COG5):c.*612G>A rs6958137
NM_006348.5(COG5):c.*862C>G rs1258415041
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.1900A>T (p.Met634Leu) rs746657630
NM_006348.5(COG5):c.1901T>C (p.Met634Thr) rs1038024684
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.2030C>A (p.Ala677Asp) rs778785040
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.376A>C (p.Asn126His) rs1802592284
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.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006348.5(COG5):c.616C>T (p.Leu206Phe) rs1792382468
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+10A>G rs886061874
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.739A>G (p.Ser247Gly) rs1261586682
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.81del (p.Glu27fs) rs777937112
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.836-11C>T rs886061873
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.948+12A>T rs763696416
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.959T>C (p.Leu320Pro) rs1584729488
NM_006348.5(COG5):c.977A>G (p.Lys326Arg) rs1214496373
NM_012257.4(HBP1):c.*659T>C rs1798368433
NM_181581.3(DUS4L):c.-111+71G>A rs886061879
NM_181581.3(DUS4L):c.-111+72G>C rs886061880
NM_181581.3(DUS4L):c.-162C>A rs886061877
NM_181581.3(DUS4L):c.-186G>A rs778346804
NM_181581.3(DUS4L):c.-275C>G rs541648926
NM_181581.3(DUS4L):c.-275C>T rs541648926
NM_181581.3(DUS4L):c.-301T>A rs886061876
NM_181581.3(DUS4L):c.-332A>C
NM_181581.3(DUS4L):c.-332A>T rs748922374
NM_181581.3(DUS4L):c.-347C>T

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.