ClinVar Miner

List of variants in gene ALG3 reported as likely benign for ALG3-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721 0.00056
NM_005787.6(ALG3):c.16C>A (p.Arg6=) rs199587005 0.00039
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327 0.00034
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_005787.6(ALG3):c.1176C>T (p.Ile392=) rs377091766 0.00010
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_005787.6(ALG3):c.1215C>T (p.Ser405=) rs116621135 0.00007
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.312C>T (p.Phe104=) rs767923381 0.00006
NM_005787.6(ALG3):c.549C>T (p.Phe183=) rs780507509 0.00004
NM_005787.6(ALG3):c.642C>T (p.Phe214=) rs545724911 0.00004
NM_005787.6(ALG3):c.1107C>T (p.Pro369=) rs753913644 0.00002
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00002
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005787.6(ALG3):c.240C>T (p.Gly80=) rs756013928 0.00001
NM_005787.6(ALG3):c.294T>A (p.Leu98=) rs200538695 0.00001
NM_005787.6(ALG3):c.605+9C>T rs1177025121 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.690G>A (p.Gly230=) rs755828168 0.00001
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs1174962210 0.00001
NM_005787.6(ALG3):c.1009+14T>G
NM_005787.6(ALG3):c.1014C>T (p.Ile338=)
NM_005787.6(ALG3):c.1170G>T (p.Gly390=) rs758528909
NM_005787.6(ALG3):c.1242C>T (p.Ala414=)
NM_005787.6(ALG3):c.1254G>A (p.Leu418=)
NM_005787.6(ALG3):c.18G>A (p.Arg6=) rs1239564678
NM_005787.6(ALG3):c.196+16G>A
NM_005787.6(ALG3):c.196+19del rs1260750286
NM_005787.6(ALG3):c.296+13A>C rs2108442309
NM_005787.6(ALG3):c.296+20T>C
NM_005787.6(ALG3):c.297-11T>C
NM_005787.6(ALG3):c.297-19A>G
NM_005787.6(ALG3):c.30G>C (p.Arg10=)
NM_005787.6(ALG3):c.321C>T (p.Ile107=) rs1436563177
NM_005787.6(ALG3):c.33C>A (p.Ser11=)
NM_005787.6(ALG3):c.445-17C>T
NM_005787.6(ALG3):c.445-19T>C
NM_005787.6(ALG3):c.456C>T (p.Phe152=)
NM_005787.6(ALG3):c.579C>T (p.Arg193=)
NM_005787.6(ALG3):c.606-18C>T
NM_005787.6(ALG3):c.633G>A (p.Val211=) rs2108441361
NM_005787.6(ALG3):c.639C>A (p.Leu213=)
NM_005787.6(ALG3):c.717T>G (p.Ala239=)
NM_005787.6(ALG3):c.888C>T (p.Ala296=)
NM_005787.6(ALG3):c.918C>T (p.Leu306=)
NM_005787.6(ALG3):c.932+10G>A
NM_005787.6(ALG3):c.933-20_933-17del
NM_005787.6(ALG3):c.945T>C (p.Ser315=)

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