ClinVar Miner

List of variants in gene combination COG5, DUS4L, DUS4L-BCAP29 reported as uncertain significance for COG5-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
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+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.-347C>T

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