ClinVar Miner

List of variants in gene combination ALG1, EEF2KMT reported as benign for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu) rs9745522 0.11789
NM_201400.4(EEF2KMT):c.*1074C>T rs1957081691
NM_201400.4(EEF2KMT):c.*893del rs1381360907
NM_201400.4(EEF2KMT):c.*893dup

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