List of variants in gene combination ALG1, LOC130058384 reported as uncertain significance for ALG1-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: 17

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HGVS	dbSNP	gnomAD frequency
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser)	rs1393282696	0.00004
NM_019109.5(ALG1):c.208+14_208+17dup	rs746780708	0.00002
NC_000016.10:g.5071991C>T	rs1051082443	0.00001
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr)	rs1314923558	0.00001
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro)	rs2142698518
NM_019109.5(ALG1):c.123C>T (p.Gly41=)
NM_019109.5(ALG1):c.125A>G (p.Asp42Gly)
NM_019109.5(ALG1):c.160C>G (p.Leu54Val)	rs1956824877
NM_019109.5(ALG1):c.169G>A (p.Ala57Thr)
NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)
NM_019109.5(ALG1):c.173T>C (p.Met58Thr)
NM_019109.5(ALG1):c.176A>C (p.His59Pro)	rs773372110
NM_019109.5(ALG1):c.176A>G (p.His59Arg)	rs773372110
NM_019109.5(ALG1):c.191C>T (p.Thr64Ile)	rs145474820
NM_019109.5(ALG1):c.193C>G (p.Leu65Val)
NM_019109.5(ALG1):c.193C>T (p.Leu65Phe)
NM_019109.5(ALG1):c.200G>T (p.Gly67Val)	rs778626972

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