ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_032409.3(PINK1):c.*181C>G rs513414 0.84999
NM_032409.3(PINK1):c.*37A>T rs686658 0.84751
NM_005216.5(DDOST):c.315C>T (p.Gly105=) rs4704 0.63408
NM_032409.3(PINK1):c.*265G>T rs512550 0.56246
NM_005216.5(DDOST):c.*40A>G rs6893
NM_005216.5(DDOST):c.*542TAAA[6] rs78039244

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