ClinVar Miner

List of variants studied for COG5-CDG by Invitae

Included ClinVar conditions (1):
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Total variants: 18
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NM_006348.3(COG5):c.1000A>G (p.Met334Val)
NM_006348.3(COG5):c.1056A>G (p.Gln352=) rs375846157
NM_006348.3(COG5):c.1130C>T (p.Pro377Leu) rs143773937
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.1849C>T (p.His617Tyr) rs151129529
NM_006348.3(COG5):c.189delG rs1554464495
NM_006348.3(COG5):c.1920C>T (p.Ile640=) rs35581984
NM_006348.3(COG5):c.1996A>G (p.Lys666Glu)
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.644A>G (p.Gln215Arg)
NM_006348.3(COG5):c.969T>G (p.Thr323=) rs74522314

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