ClinVar Miner

List of variants in gene COG5 reported as benign for COG5-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.895T>C (p.Phe299Leu) rs2269970 0.64619
NM_006348.5(COG5):c.234+16T>A rs2520272 0.41271
NM_006348.5(COG5):c.347+4C>A rs2066735 0.26803
NM_006348.5(COG5):c.949-18A>G rs12536603 0.15851
NM_006348.5(COG5):c.*828C>G rs7981 0.15427
NM_006348.5(COG5):c.1689T>G (p.Val563=) rs17349904 0.15364
NM_006348.5(COG5):c.1000A>G (p.Ile334Val) rs34087251 0.06004
NM_006348.5(COG5):c.1827C>T (p.Ile609=) rs35581984 0.03303
NG_028095.1(COG5):g.5589G>A rs73419464 0.02557
NM_006348.5(COG5):c.1257A>G (p.Leu419=) rs74443110 0.01554
NM_006348.5(COG5):c.539-17G>A rs150929025 0.01278
NM_006348.5(COG5):c.876T>G (p.Thr292=) rs74522314 0.00898
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_006348.5(COG5):c.735T>A (p.Ile245=) rs116603307 0.00385
NM_006348.5(COG5):c.1262A>G (p.His421Arg) rs35393416 0.00266
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_006348.5(COG5):c.2124A>G (p.Arg708=) rs148020994 0.00135
NM_006348.5(COG5):c.451A>G (p.Ile151Val) rs79413133 0.00091
NM_006348.5(COG5):c.293-18A>G rs75441879 0.00083
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937 0.00067
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu) rs184902233 0.00056
NM_006348.5(COG5):c.1475+16A>G rs201100132 0.00039
NM_006348.5(COG5):c.2271C>T (p.Pro757=) rs145648013 0.00039
NM_006348.5(COG5):c.15C>G (p.Gly5=) rs202123650 0.00035
NM_006348.5(COG5):c.795C>T (p.Asp265=) rs372226278 0.00009
NM_006348.5(COG5):c.1027-16del rs1165979060
NM_006348.5(COG5):c.1314-15dup
NM_006348.5(COG5):c.1476-7dup rs774912830
NM_006348.5(COG5):c.1750-20dup rs763434588
NM_006348.5(COG5):c.1750-3del
NM_006348.5(COG5):c.1750-3dup rs746706902
NM_006348.5(COG5):c.2169-10del rs763138814
NM_006348.5(COG5):c.235-10dup rs778522810
NM_006348.5(COG5):c.538+20del rs201626701
NM_006348.5(COG5):c.538+6dup rs201626701
NM_006348.5(COG5):c.669+18_669+19del rs10579767
NM_006348.5(COG5):c.670-4dup
NM_006348.5(COG5):c.94+14del rs1263454350
NM_006348.5(COG5):c.95-12del rs2129179571

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