ClinVar Miner

List of variants reported as benign for DDOST-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005216.5(DDOST):c.315C>T (p.Gly105=) rs4704 0.63408
NM_005216.5(DDOST):c.646-16C>T rs607254 0.38527
NM_005216.5(DDOST):c.456+18C>T rs3738140 0.19425
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg) rs537816 0.02282
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_005216.5(DDOST):c.66G>A (p.Ala22=) rs17837938 0.01665
NM_005216.5(DDOST):c.265+9T>A rs79243170 0.01029
NM_005216.5(DDOST):c.-12A>C rs61739382 0.00736
NM_005216.5(DDOST):c.663G>A (p.Gly221=) rs41307775 0.00625
NM_005216.5(DDOST):c.1176C>T (p.Ser392=) rs149576051 0.00320
NM_005216.5(DDOST):c.776C>T (p.Ala259Val) rs138061134 0.00201
NM_005216.5(DDOST):c.353-11G>C rs202107268 0.00182
NM_005216.5(DDOST):c.1209C>T (p.Arg403=) rs148883998 0.00148
NM_005216.5(DDOST):c.893G>A (p.Arg298Gln) rs117925699 0.00098
NM_005216.5(DDOST):c.36C>G (p.Leu12=) rs143329944 0.00081
NM_005216.5(DDOST):c.1293C>T (p.His431=) rs117634838 0.00031
NM_005216.5(DDOST):c.1170+16dup rs566726706 0.00021
NM_005216.5(DDOST):c.999C>T (p.Gly333=) rs190780604 0.00017
NM_005216.5(DDOST):c.154+19G>C rs200373074 0.00004
NC_000001.11:g.20661380G>C rs537816
NM_005216.5(DDOST):c.*40A>G rs6893
NM_005216.5(DDOST):c.1063+34dup rs11428148

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