ClinVar Miner

List of variants in gene ALG3 reported as pathogenic for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) rs1560162116
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter) rs1560161567
NM_005787.6(ALG3):c.163_196+3del rs1560166870
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg) rs119103237
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) rs367679074
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) rs370434427
NM_005787.6(ALG3):c.353G>A (p.Gly118Asp) rs28940588
NM_005787.6(ALG3):c.470T>A (p.Met157Lys) rs119103238
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) rs119103236

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