ClinVar Miner

List of variants reported as uncertain significance for ALG6-congenital disorder of glycosylation 1C by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met) rs138890428 0.00012
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp) rs562509297 0.00011
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser) rs139521934 0.00010
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile) rs200661626 0.00008
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val) rs145152115 0.00007
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe) rs151277583 0.00006
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr) rs376087919 0.00006
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala) rs368086400 0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_013339.4(ALG6):c.916T>G (p.Phe306Val) rs769417698 0.00004
NM_013339.4(ALG6):c.430-3C>T rs549094888 0.00003
NM_013339.4(ALG6):c.881G>A (p.Arg294His) rs772248256 0.00003
NM_013339.4(ALG6):c.942A>G (p.Ile314Met) rs774489558 0.00003
NM_013339.4(ALG6):c.1315A>G (p.Ile439Val) rs1259683238 0.00002
NM_013339.4(ALG6):c.347-13C>G rs981893296 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_013339.4(ALG6):c.681-5T>C rs778405436 0.00002
NM_013339.4(ALG6):c.727G>A (p.Val243Ile) rs367674567 0.00002
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr) rs756608021 0.00002
NM_013339.4(ALG6):c.95C>T (p.Pro32Leu) rs770413804 0.00002
NM_013339.4(ALG6):c.1129A>G (p.Met377Val) rs934616664 0.00001
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser) rs150976885 0.00001
NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile) rs1461862944 0.00001
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile) rs1212756714 0.00001
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg) rs1475278999 0.00001
NM_013339.4(ALG6):c.1326+6T>A rs765364882 0.00001
NM_013339.4(ALG6):c.1366A>G (p.Met456Val) rs1463890121 0.00001
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser) rs752244400 0.00001
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu) rs548994709 0.00001
NM_013339.4(ALG6):c.1444T>G (p.Phe482Val) rs1215619833 0.00001
NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr) rs749363896 0.00001
NM_013339.4(ALG6):c.1456T>G (p.Leu486Val) rs1274029656 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu) rs201074540 0.00001
NM_013339.4(ALG6):c.237T>G (p.His79Gln) rs747184607 0.00001
NM_013339.4(ALG6):c.26T>C (p.Val9Ala) rs1456036206 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu) rs1407217511 0.00001
NM_013339.4(ALG6):c.470T>G (p.Ile157Ser) rs768049817 0.00001
NM_013339.4(ALG6):c.475A>G (p.Ile159Val) rs531362960 0.00001
NM_013339.4(ALG6):c.476T>C (p.Ile159Thr) rs1037253381 0.00001
NM_013339.4(ALG6):c.529G>A (p.Gly177Ser) rs1250215676 0.00001
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr) rs878890161 0.00001
NM_013339.4(ALG6):c.591A>G (p.Ile197Met) rs753024606 0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 0.00001
NM_013339.4(ALG6):c.816+4T>C rs762931650 0.00001
NM_013339.4(ALG6):c.862A>G (p.Ile288Val) rs557790186 0.00001
NM_013339.4(ALG6):c.886A>G (p.Ile296Val) rs1450720827 0.00001
NM_013339.4(ALG6):c.914C>T (p.Thr305Met) rs546145736 0.00001
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro) rs1212125571 0.00001
NM_013339.4(ALG6):c.100A>C (p.Met34Leu) rs1557585842
NM_013339.4(ALG6):c.100A>G (p.Met34Val)
NM_013339.4(ALG6):c.1031A>G (p.His344Arg)
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)
NM_013339.4(ALG6):c.1051G>A (p.Val351Met)
NM_013339.4(ALG6):c.1058+6T>C rs1644562441
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val) rs1260829753
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr) rs952006163
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)
NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe) rs764449670
NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro) rs1644630271
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)
NM_013339.4(ALG6):c.1127+4A>G rs2100440455
NM_013339.4(ALG6):c.1128-3C>T
NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys) rs1644631363
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile) rs2100440869
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)
NM_013339.4(ALG6):c.130T>C (p.Trp44Arg) rs2100404960
NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile) rs1318387105
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser) rs2100440907
NM_013339.4(ALG6):c.1326+2dup
NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser) rs552078516
NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)
NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)
NM_013339.4(ALG6):c.1402G>C (p.Asp468His) rs1644682187
NM_013339.4(ALG6):c.1414G>A (p.Val472Ile) rs1644682228
NM_013339.4(ALG6):c.1414G>C (p.Val472Leu) rs1644682228
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu) rs747356051
NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr) rs766169939
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly) rs1644682851
NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)
NM_013339.4(ALG6):c.178A>C (p.Ser60Arg) rs1330438032
NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)
NM_013339.4(ALG6):c.19A>G (p.Met7Val)
NM_013339.4(ALG6):c.20T>C (p.Met7Thr)
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu) rs2100412827
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile) rs773292757
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.236A>T (p.His79Leu)
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)
NM_013339.4(ALG6):c.256G>A (p.Val86Met)
NM_013339.4(ALG6):c.258-3C>T
NM_013339.4(ALG6):c.272A>G (p.Asn91Ser) rs2100415389
NM_013339.4(ALG6):c.278A>G (p.Asp93Gly) rs1329673040
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)
NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)
NM_013339.4(ALG6):c.322C>G (p.His108Asp) rs2100415489
NM_013339.4(ALG6):c.325A>G (p.Lys109Glu) rs1644481094
NM_013339.4(ALG6):c.326A>T (p.Lys109Met)
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)
NM_013339.4(ALG6):c.346+19G>A
NM_013339.4(ALG6):c.346+5A>G
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe) rs961740482
NM_013339.4(ALG6):c.410A>T (p.Glu137Val)
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)
NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)
NM_013339.4(ALG6):c.425A>T (p.Lys142Ile) rs2100417063
NM_013339.4(ALG6):c.428A>C (p.Lys143Thr) rs2100417066
NM_013339.4(ALG6):c.429G>A (p.Lys143=) rs193223712
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)
NM_013339.4(ALG6):c.446G>C (p.Cys149Ser) rs2100417551
NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)
NM_013339.4(ALG6):c.532G>A (p.Val178Ile) rs2100420805
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)
NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)
NM_013339.4(ALG6):c.563T>A (p.Leu188Gln) rs1446317739
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg) rs1644514423
NM_013339.4(ALG6):c.604A>G (p.Met202Val)
NM_013339.4(ALG6):c.604A>T (p.Met202Leu) rs757012140
NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)
NM_013339.4(ALG6):c.619G>T (p.Ala207Ser) rs756038267
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)
NM_013339.4(ALG6):c.628T>G (p.Phe210Val)
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly) rs1644514646
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)
NM_013339.4(ALG6):c.677A>T (p.Lys226Met)
NM_013339.4(ALG6):c.680+4A>G
NM_013339.4(ALG6):c.681-18C>G
NM_013339.4(ALG6):c.681-5T>G
NM_013339.4(ALG6):c.681-6T>G
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)
NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)
NM_013339.4(ALG6):c.712G>A (p.Val238Ile)
NM_013339.4(ALG6):c.714T>C (p.Val238=)
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)
NM_013339.4(ALG6):c.731T>A (p.Leu244His)
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)
NM_013339.4(ALG6):c.778C>G (p.Leu260Val)
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del) rs886548508
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)
NM_013339.4(ALG6):c.816+4T>G
NM_013339.4(ALG6):c.823G>A (p.Val275Ile)
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)
NM_013339.4(ALG6):c.843C>T (p.Ser281=)
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)
NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)
NM_013339.4(ALG6):c.940A>G (p.Ile314Val)
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)
NM_013339.4(ALG6):c.987G>A (p.Leu329=)

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