ClinVar Miner

List of variants reported for ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_024740.2(ALG9):c.132-16T>G rs781960988 0.00248
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_024740.2(ALG9):c.945T>C (p.Asn315=) rs185555263 0.00062
NM_024740.2(ALG9):c.405+7G>A rs372345664 0.00053
NM_024740.2(ALG9):c.537C>T (p.Leu179=) rs199614437 0.00046
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_024740.2(ALG9):c.1314A>G (p.Ala438=) rs201611208 0.00013
NM_024740.2(ALG9):c.789+11T>G rs371939356 0.00010
NM_024740.2(ALG9):c.1149C>T (p.Gly383=) rs1057521573 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.132-14T>G rs782251612 0.00001
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00001
NM_024740.2(ALG9):c.566-1G>A rs782379446 0.00001
NM_024740.2(ALG9):c.701+1G>A rs2137107185

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