ClinVar Miner

List of variants in gene DGUOK reported as likely pathogenic for not provided

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_080916.3(DGUOK):c.494A>T (p.Glu165Val) rs770950831 0.00001
NM_080916.3(DGUOK):c.757_759del (p.Asn253del) rs775276142 0.00001
NM_080916.3(DGUOK):c.143-1G>A
NM_080916.3(DGUOK):c.255+2T>A rs1553401827
NM_080916.3(DGUOK):c.352C>T (p.Arg118Cys) rs767604650
NM_080916.3(DGUOK):c.353G>A (p.Arg118His) rs150678946
NM_080916.3(DGUOK):c.444-62C>A rs528587600
NM_080916.3(DGUOK):c.591+1G>A
NM_080916.3(DGUOK):c.707+1G>A rs1683179791
NM_080916.3(DGUOK):c.708-2A>G
NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg) rs886037846

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