ClinVar Miner

List of variants reported as uncertain significance for ALG6-congenital disorder of glycosylation 1C by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.-207-12T>C rs183861757 0.00186
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_013339.4(ALG6):c.*404T>C rs138529811 0.00045
NM_013339.4(ALG6):c.*47A>T rs372767276 0.00026
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_013339.4(ALG6):c.*1169G>A rs536772187 0.00017
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp) rs562509297 0.00011
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_013339.4(ALG6):c.*1004C>A rs886046477 0.00008
NM_013339.4(ALG6):c.*670G>A rs367589530 0.00007
NM_013339.4(ALG6):c.-141A>G rs1054104046 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr) rs376087919 0.00006
NM_013339.4(ALG6):c.*1313T>C rs372013109 0.00005
NM_013339.4(ALG6):c.-120C>T rs1016079273 0.00004
NM_013339.4(ALG6):c.-128C>T rs188685870 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.*1137G>A rs886046478 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.*1464A>C rs1316941453 0.00001
NM_013339.4(ALG6):c.*152T>C rs886046473 0.00001
NM_013339.4(ALG6):c.*174A>G rs886046474 0.00001
NM_013339.4(ALG6):c.*436T>C rs550372028 0.00001
NM_013339.4(ALG6):c.101T>C (p.Met34Thr) rs750689981 0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu) rs201074540 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.328C>G (p.Leu110Val) rs753362025 0.00001
NM_013339.4(ALG6):c.430-9T>G rs769256352 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 0.00001
NM_013339.4(ALG6):c.862A>G (p.Ile288Val) rs557790186 0.00001
NM_013339.4(ALG6):c.*1238A>C rs1644697712
NM_013339.4(ALG6):c.*454C>T rs903370494
NM_013339.4(ALG6):c.*89G>A rs531808380
NM_013339.4(ALG6):c.-208+10T>C rs1333912773
NM_013339.4(ALG6):c.-221C>G rs886046470
NM_013339.4(ALG6):c.1127+8A>C rs756307525
NM_013339.4(ALG6):c.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.728T>C (p.Val243Ala) rs886046472

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