ClinVar Miner

List of variants studied for ALG3-CDG by Illumina Clinical Services Laboratory,Illumina

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Total variants: 37
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HGVS dbSNP
NM_001006941.2(ALG3):c.52+255G>A rs0
NM_001006941.2(ALG3):c.52+260G>C rs747569137
NM_005787.6(ALG3):c.*108T>C rs0
NM_005787.6(ALG3):c.*152C>T rs186599528
NM_005787.6(ALG3):c.*50T>G rs706584
NM_005787.6(ALG3):c.*65C>T rs776636517
NM_005787.6(ALG3):c.1015G>A (p.Val339Ile) rs0
NM_005787.6(ALG3):c.1077G>A (p.Gln359=) rs0
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267
NM_005787.6(ALG3):c.1146C>T (p.His382=) rs370304622
NM_005787.6(ALG3):c.1156T>C (p.Leu386=) rs761215928
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln) rs775068875
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721
NM_005787.6(ALG3):c.296+7G>A rs0
NM_005787.6(ALG3):c.297-6T>C rs371534425
NM_005787.6(ALG3):c.304G>T (p.Ala102Ser) rs0
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463
NM_005787.6(ALG3):c.347G>T (p.Ser116Ile) rs0
NM_005787.6(ALG3):c.41C>T (p.Ala14Val) rs767695697
NM_005787.6(ALG3):c.469A>G (p.Met157Val) rs0
NM_005787.6(ALG3):c.51A>G (p.Ala17=) rs763727038
NM_005787.6(ALG3):c.544C>T (p.Leu182Phe) rs0
NM_005787.6(ALG3):c.578G>A (p.Arg193His) rs550144109
NM_005787.6(ALG3):c.591T>C (p.Gly197=) rs2233464
NM_005787.6(ALG3):c.606-10C>T rs372141050
NM_005787.6(ALG3):c.606-8C>T rs368253820
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs0
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs0
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys) rs0
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466
NM_005787.6(ALG3):c.846G>A (p.Ala282=) rs370912574
NM_005787.6(ALG3):c.933-4C>T rs190571910
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys) rs0
NM_005787.6(ALG3):c.985C>T (p.Pro329Ser) rs751758378

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