ClinVar Miner

List of variants reported as pathogenic for ALG6-congenital disorder of glycosylation 1C

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_013339.4(ALG6):c.1249del (p.Gln417fs) rs771069984 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.257+2dup rs745426479 0.00002
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273 0.00001
NM_013339.4(ALG6):c.510del (p.Gly172fs) rs773277552 0.00001
NM_013339.4(ALG6):c.680+1G>A rs1253289234 0.00001
NM_013339.4(ALG6):c.680+2T>G rs868768232 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NC_000001.10:g.(?_63836639)_(63902701_?)del
NC_000001.10:g.(?_63836649)_(63836750_?)del
NC_000001.10:g.(?_63867905)_(63902691_?)del
NC_000001.10:g.(?_63885021)_(63885131_?)del
NC_000001.11:g.(?_63428723)_(63429136_?)del
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs) rs1644562014
NM_013339.4(ALG6):c.100_101del (p.Met34fs)
NM_013339.4(ALG6):c.1018del (p.Ser340fs) rs1269984067
NM_013339.4(ALG6):c.1029dup (p.His344fs)
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
NM_013339.4(ALG6):c.1167del (p.Ser390fs) rs769698652
NM_013339.4(ALG6):c.1171_1172del (p.Val391fs) rs2100440701
NM_013339.4(ALG6):c.1194dup (p.Ile399fs) rs1207096732
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter) rs759308812
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter) rs1644631921
NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)
NM_013339.4(ALG6):c.1308del (p.Arg437fs)
NM_013339.4(ALG6):c.1326+1G>A
NM_013339.4(ALG6):c.1326+1G>T rs1475789647
NM_013339.4(ALG6):c.1338dup (p.Val447fs) rs1644681692
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer) rs756566938
NM_013339.4(ALG6):c.147del (p.Phe49fs)
NM_013339.4(ALG6):c.167+5G>A rs1557585860
NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
NM_013339.4(ALG6):c.254_255del (p.Tyr85fs) rs2100412885
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)
NM_013339.4(ALG6):c.290del (p.Leu97fs) rs1644480895
NM_013339.4(ALG6):c.316C>T (p.Gln106Ter) rs1240285695
NM_013339.4(ALG6):c.352del (p.Ile118fs)
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)
NM_013339.4(ALG6):c.409G>T (p.Glu137Ter) rs2100417039
NM_013339.4(ALG6):c.428del (p.Lys143fs) rs1471326272
NM_013339.4(ALG6):c.443dup (p.Leu148fs)
NM_013339.4(ALG6):c.452del (p.Leu151fs) rs1349358854
NM_013339.4(ALG6):c.484_485insA (p.Gly162fs) rs2100417620
NM_013339.4(ALG6):c.492dup (p.Gln165fs) rs1644493041
NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)
NM_013339.4(ALG6):c.506_507del (p.Val169fs) rs1274913587
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)
NM_013339.4(ALG6):c.574del (p.Ala192fs) rs2100420854
NM_013339.4(ALG6):c.634del (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.634dup (p.Cys212fs) rs879133727
NM_013339.4(ALG6):c.642del (p.Leu214fs)
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.663dup (p.Gly222fs)
NM_013339.4(ALG6):c.684del (p.Phe228fs) rs2100421533
NM_013339.4(ALG6):c.714del (p.Val239fs)
NM_013339.4(ALG6):c.723del (p.Phe242fs) rs755112036
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)
NM_013339.4(ALG6):c.789_790del (p.Phe264fs) rs767943869
NM_013339.4(ALG6):c.791del (p.Phe264fs) rs2100421716
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer) rs2100421727
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)
NM_013339.4(ALG6):c.835del (p.Trp279fs) rs2100423312
NM_013339.4(ALG6):c.849del (p.Asn283fs) rs1644530448
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter) rs1644543791
NM_013339.4(ALG6):c.974_984del (p.Phe325fs)

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.