List of variants in gene ALG2 reported as uncertain significance for congenital disorder of glycosylation type I

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 161

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HGVS	dbSNP	gnomAD frequency
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)	rs146770430	0.00055
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)	rs56393253	0.00054
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)	rs140382423	0.00022
NM_033087.4(ALG2):c.399C>G (p.Ile133Met)	rs371772900	0.00019
NM_033087.4(ALG2):c.217G>C (p.Asp73His)	rs375634924	0.00014
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)	rs1054683823	0.00010
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)	rs369231996	0.00009
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile)	rs373454393	0.00009
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln)	rs143625172	0.00008
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)	rs763662395	0.00007
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly)	rs752153404	0.00006
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)	rs754476664	0.00006
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly)	rs369670496	0.00006
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro)	rs1279623882	0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)	rs147346291	0.00006
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)	rs762560638	0.00005
NM_033087.4(ALG2):c.1156A>G (p.Met386Val)	rs772649099	0.00004
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His)	rs376959842	0.00004
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp)	rs761793563	0.00004
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys)	rs1372670324	0.00004
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)	rs1156439417	0.00004
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp)	rs780287266	0.00004
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser)	rs925393788	0.00004
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys)	rs1329170357	0.00003
NM_033087.4(ALG2):c.1A>G (p.Met1Val)	rs750172644	0.00003
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp)	rs934545988	0.00003
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp)	rs752081241	0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)	rs377047079	0.00003
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr)	rs138258236	0.00002
NM_033087.4(ALG2):c.1218G>C (p.Gln406His)	rs763754023	0.00002
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu)	rs777441526	0.00002
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)	rs776974668	0.00002
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp)	rs376627887	0.00002
NM_033087.4(ALG2):c.361A>G (p.Ile121Val)	rs774204697	0.00002
NM_033087.4(ALG2):c.752G>A (p.Arg251His)	rs201729325	0.00002
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)	rs1229029511	0.00002
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu)	rs544811110	0.00001
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln)	rs1828726794	0.00001
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu)	rs1828725925	0.00001
NM_033087.4(ALG2):c.107C>T (p.Ala36Val)	rs567637718	0.00001
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu)	rs754159662	0.00001
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val)	rs762887574	0.00001
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)	rs963221673	0.00001
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn)	rs1475354932	0.00001
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu)	rs749613639	0.00001
NM_033087.4(ALG2):c.168G>A (p.Pro56=)	rs1225254115	0.00001
NM_033087.4(ALG2):c.202G>A (p.Val68Met)	rs770103603	0.00001
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu)	rs755705607	0.00001
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)	rs941593352	0.00001
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)	rs910168958	0.00001
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro)	rs770722154	0.00001
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla)	rs762654045	0.00001
NM_033087.4(ALG2):c.30del (p.Ser11fs)	rs763575022	0.00001
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)	rs1025210566	0.00001
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile)	rs752746581	0.00001
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)	rs746092484	0.00001
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp)	rs1486842886	0.00001
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro)	rs759789517	0.00001
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile)	rs1166295828	0.00001
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly)	rs745514949	0.00001
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter)	rs139547697	0.00001
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys)	rs189167741	0.00001
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile)	rs766853240	0.00001
NM_033087.4(ALG2):c.76G>A (p.Val26Met)	rs1280699944	0.00001
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)	rs202053471	0.00001
NM_033087.4(ALG2):c.947C>T (p.Thr316Met)	rs764242401	0.00001
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
NM_033087.4(ALG2):c.1014G>T (p.Gln338His)	rs2118998218
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr)	rs2118998170
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)	rs1588618702
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)	rs1554707637
NM_033087.4(ALG2):c.1064A>G (p.His355Arg)	rs1246812091
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr)	rs1828724423
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala)	rs1340353164
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs)	rs2118997596
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter)	rs372356780
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
NM_033087.4(ALG2):c.132del (p.Cys45fs)
NM_033087.4(ALG2):c.145A>G (p.Ile49Val)	rs759980920
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter)	rs748281785
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg)	rs773062290
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys)	rs753517894
NM_033087.4(ALG2):c.17G>T (p.Gly6Val)	rs180849348
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu)	rs777441526
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)	rs1588620643
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)	rs551744220
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)	rs551744220
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg)	rs745813432
NM_033087.4(ALG2):c.215G>T (p.Gly72Val)	rs770738799
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr)	rs375634924
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro)	rs1564222174
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup)	rs1050763044
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup)	rs759891618
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn)	rs769169852
NM_033087.4(ALG2):c.292G>A (p.Ala98Thr)
NM_033087.4(ALG2):c.308del (p.Phe103fs)
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)	rs747781559
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu)	rs2119008980
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg)	rs2119007195
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
NM_033087.4(ALG2):c.367G>A (p.Val123Met)	rs1828745406
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
NM_033087.4(ALG2):c.442_443del (p.Asp148fs)	rs1828743411
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)	rs1350412580
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln)	rs757920586
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp)	rs1486842886
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala)	rs1588619067
NM_033087.4(ALG2):c.507G>A (p.Met169Ile)	rs779723777
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter)	rs1828741342
NM_033087.4(ALG2):c.519C>G (p.Ile173Met)	rs1372608210
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
NM_033087.4(ALG2):c.578A>G (p.His193Arg)	rs749336918
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser)	rs201271253
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer)	rs745635377
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile)	rs1828737709
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)	rs866855594
NM_033087.4(ALG2):c.679C>A (p.Leu227Met)	rs1308983324
NM_033087.4(ALG2):c.679C>G (p.Leu227Val)	rs1308983324
NM_033087.4(ALG2):c.686T>A (p.Leu229His)	rs1828737491
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys)	rs777262456
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
NM_033087.4(ALG2):c.760T>G (p.Leu254Val)	rs62562374
NM_033087.4(ALG2):c.795C>G (p.Ile265Met)	rs183416022
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
NM_033087.4(ALG2):c.839A>G (p.His280Arg)	rs2118998777
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
NM_033087.4(ALG2):c.89_114del (p.Glu30fs)	rs775204090
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
NM_033087.4(ALG2):c.945C>T (p.Cys315=)	rs1828729293
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys)	rs1828728819
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys)	rs2118998416
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
NM_033087.4(ALG2):c.97G>A (p.Val33Met)	rs774607653
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)

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