ClinVar Miner

List of variants in gene ALG9 reported as likely benign for ALG9-congenital disorder of glycosylation

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_024740.2(ALG9):c.132-12dup rs1555157381 0.46207
NM_024740.2(ALG9):c.*1220C>T rs114406340 0.01795
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_024740.2(ALG9):c.*3750A>C rs114397288 0.00792
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.815A>G (p.Tyr272Cys) rs145762575 0.00235
NM_024740.2(ALG9):c.*2743T>C rs139048490 0.00222
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His) rs201194863 0.00128
NM_024740.2(ALG9):c.*971C>T rs140187723 0.00090
NM_024740.2(ALG9):c.1762G>T (p.Val588Phe) rs150225347 0.00071
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.1356A>G (p.Glu452=) rs200460892 0.00015
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.1533A>G (p.Glu511=) rs377345625 0.00006
NM_024740.2(ALG9):c.765G>A (p.Ser255=) rs372338362 0.00006
NM_024740.2(ALG9):c.790-4T>C rs534732271 0.00006
NM_024740.2(ALG9):c.896-3C>T rs782063335 0.00005
NM_024740.2(ALG9):c.1038G>A (p.Pro346=) rs372262029 0.00004
NM_024740.2(ALG9):c.246T>C (p.Asp82=) rs782243361 0.00004
NM_024740.2(ALG9):c.405+8C>A rs559793984 0.00004
NM_024740.2(ALG9):c.477-15T>C rs782507133 0.00003
NM_024740.2(ALG9):c.504C>T (p.His168=) rs782753981 0.00003
NM_024740.2(ALG9):c.1134T>A (p.Leu378=) rs1375163899 0.00001
NM_024740.2(ALG9):c.1149C>T (p.Gly383=) rs1057521573 0.00001
NM_024740.2(ALG9):c.1251G>A (p.Ser417=) rs782372397 0.00001
NM_024740.2(ALG9):c.1392T>A (p.Thr464=) rs1461283997 0.00001
NM_024740.2(ALG9):c.1173+18G>A
NM_024740.2(ALG9):c.1174-5A>T
NM_024740.2(ALG9):c.132-13_132-12insTTG
NM_024740.2(ALG9):c.132-19T>G
NM_024740.2(ALG9):c.132-20T>G
NM_024740.2(ALG9):c.1320C>T (p.Phe440=)
NM_024740.2(ALG9):c.1324+10C>T
NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)
NM_024740.2(ALG9):c.1377C>T (p.Asp459=) rs2136830008
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
NM_024740.2(ALG9):c.1733+19A>G
NM_024740.2(ALG9):c.1733+9C>T
NM_024740.2(ALG9):c.1734-15T>C
NM_024740.2(ALG9):c.1734-16dup
NM_024740.2(ALG9):c.270+17G>C
NM_024740.2(ALG9):c.271-10G>A
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
NM_024740.2(ALG9):c.405+9A>T
NM_024740.2(ALG9):c.414G>A (p.Val138=)
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
NM_024740.2(ALG9):c.702-9_702-8del
NM_024740.2(ALG9):c.790-20T>C
NM_024740.2(ALG9):c.846C>T (p.Leu282=)

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