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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)	rs119103236	0.00005
NM_005787.6(ALG3):c.1061G>A (p.Arg354His)	rs546890576	0.00002
NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)	rs376927697	0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=)	rs387906273	0.00001
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)	rs367679074	0.00001
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)	rs370434427	0.00001
NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)	rs1085307981	0.00001
NM_005787.6(ALG3):c.611C>T (p.Ala204Val)	rs1719034314	0.00001
NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)	rs1423328264	0.00001
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)	rs1023520147	0.00001
NM_005787.6(ALG3):c.914C>A (p.Ala305Asp)	rs373514167	0.00001
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.211T>C (p.Trp71Arg)	rs119103237
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)
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.749T>A (p.Leu250Gln)	rs2108440795
NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)	rs1085307980
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)	rs747953768
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)	rs1553827968

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