List of variants in gene ALG9 studied for ALG9 congenital disorder of glycosylation; Gillessen-Kaesbach-Nishimura syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

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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