ClinVar Miner

List of variants in gene COG5, DUS4L, DUS4L-BCAP29 studied for COG5-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_181581.3(DUS4L):c.-111+167G>C rs115371930 0.01547
NM_181581.3(DUS4L):c.-325C>T rs55840928 0.01489
NM_181581.3(DUS4L):c.-111+78G>C rs80122402 0.01000
NM_181581.3(DUS4L):c.-110-94C>A rs145603444 0.00625
NM_181581.3(DUS4L):c.-323G>A rs555908807 0.00016
NM_181581.3(DUS4L):c.-111+147G>C rs886061881 0.00001
NM_181581.3(DUS4L):c.-334C>T rs1010594801 0.00001
NM_181581.3(DUS4L):c.-111+131C>T rs114481539
NM_181581.3(DUS4L):c.-111+71G>A rs886061879
NM_181581.3(DUS4L):c.-111+72G>C rs886061880
NM_181581.3(DUS4L):c.-162C>A rs886061877
NM_181581.3(DUS4L):c.-275C>G rs541648926
NM_181581.3(DUS4L):c.-275C>T rs541648926
NM_181581.3(DUS4L):c.-301T>A rs886061876
NM_181581.3(DUS4L):c.-332A>C
NM_181581.3(DUS4L):c.-332A>T rs748922374
NM_181581.3(DUS4L):c.-339_-338del rs1049832940
NM_181581.3(DUS4L):c.-342C>T rs893438249
NM_181581.3(DUS4L):c.-347C>T
NM_181581.3(DUS4L):c.-348C>T
NM_181581.3(DUS4L):c.-349_-348insGGCCC rs1584977236

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