ClinVar Miner

List of variants in gene combination DDOST, PINK1 reported as uncertain significance for Congenital disorder of glycosylation

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005216.5(DDOST):c.*542TAAA[10] rs78039244
NM_005216.5(DDOST):c.*542TAAA[11] rs78039244
NM_005216.5(DDOST):c.*542TAAA[12] rs78039244
NM_005216.5(DDOST):c.*542TAAA[13] rs78039244
NM_005216.5(DDOST):c.*542TAAA[14] rs78039244
NM_005216.5(DDOST):c.*542TAAA[8] rs78039244
NM_005216.5(DDOST):c.*575_*577AAAT[3]A[11] rs886045853
NM_005216.5(DDOST):c.*575_*577AAAT[4]A[11] rs886045853
NM_005216.5(DDOST):c.*575_*577AAAT[4]A[7] rs886045853
NM_005216.5(DDOST):c.*579dup rs199990086

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