ClinVar Miner

List of variants studied for ALG1-congenital disorder of glycosylation by Genome-Nilou Lab

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.741-111T>C rs2110339 0.96843
NM_019109.5(ALG1):c.391-24C>T rs4786590 0.94238
NM_019109.5(ALG1):c.630-55G>A rs7194217 0.94198
NM_019109.5(ALG1):c.540-111T>A rs11076869 0.94065
NM_019109.5(ALG1):c.1188-77G>T rs8056523 0.53440
NM_019109.5(ALG1):c.863-70C>T rs1846689 0.50015
NM_019109.5(ALG1):c.863-84G>A rs1846690 0.50001
NM_019109.5(ALG1):c.1149C>T (p.Phe383=) rs1047732 0.48295
NM_019109.5(ALG1):c.208+135dup rs34061670
NM_019109.5(ALG1):c.208+16_208+19dup rs35400794

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