ClinVar Miner

List of variants in gene CAD reported as pathogenic 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: 8
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681 0.00002
NM_004341.5(CAD):c.2995G>A (p.Val999Met) rs1475014505 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004341.5(CAD):c.1843-1G>A rs769567624
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) rs1676249686
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198

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