List of variants in gene ALG3 reported as likely 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: 11

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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.444+1G>T	rs748878963	0.00003
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.521A>G (p.Asn174Ser)	rs1719068613	0.00001
NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys)	rs1028791709
NM_005787.6(ALG3):c.296+4A>G	rs1560164682
NM_005787.6(ALG3):c.2T>C (p.Met1Thr)	rs773271124
NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu)	rs2108442073
NM_005787.6(ALG3):c.444+2T>G	rs1719083745

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