ClinVar Miner

List of variants reported as pathogenic for ALG3-CDG by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
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.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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