ClinVar Miner

List of variants in gene COG5 studied for COG5-CDG

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP
NM_006348.3(COG5):c.1000A>G (p.Met334Val)
NM_006348.3(COG5):c.1056A>G (p.Gln352=) rs375846157
NM_006348.3(COG5):c.1119+4T>C
NM_006348.3(COG5):c.1130C>T (p.Pro377Leu) rs143773937
NM_006348.3(COG5):c.1171C>G (p.Leu391Val) rs762031095
NM_006348.3(COG5):c.1252del (p.Arg418fs)
NM_006348.3(COG5):c.1340A>G (p.Tyr447Cys) rs41276187
NM_006348.3(COG5):c.1350A>G (p.Leu450=) rs74443110
NM_006348.3(COG5):c.143G>T (p.Gly48Val) rs139763861
NM_006348.3(COG5):c.1508dup (p.Gly505fs) rs773281248
NM_006348.3(COG5):c.1628C>G (p.Ala543Gly)
NM_006348.3(COG5):c.1669-15A>G rs1562937199
NM_006348.3(COG5):c.174del (p.Glu58fs) rs777937112
NM_006348.3(COG5):c.1849C>T (p.His617Tyr) rs151129529
NM_006348.3(COG5):c.189delG rs1554464495
NM_006348.3(COG5):c.1919T>C (p.Ile640Thr) rs142433421
NM_006348.3(COG5):c.1920C>T (p.Ile640=) rs35581984
NM_006348.3(COG5):c.1996A>G (p.Lys666Glu)
NM_006348.3(COG5):c.2324C>T (p.Pro775Leu) rs1135401817
NM_006348.3(COG5):c.2440T>C (p.Ser814Pro)
NM_006348.3(COG5):c.277G>A (p.Ala93Thr)
NM_006348.3(COG5):c.391C>T (p.Leu131Phe) rs150351852
NM_006348.3(COG5):c.407C>T (p.Thr136Met) rs755030238
NM_006348.3(COG5):c.580C>T (p.Gln194Ter) rs1231928102
NM_006348.3(COG5):c.644A>G (p.Gln215Arg)
NM_006348.3(COG5):c.704_706delinsTAGTGGAATT (p.Ala235fs) rs1563018529
NM_006348.3(COG5):c.969T>G (p.Thr323=) rs74522314

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